A 63-year-old African American female presented with symptoms of atrial fibrillation and congestive heart failure with diastolic dysfunction, autonomic neuropathy, and sensory peripheral neuropathy. A Congo red positive rectal biopsy demonstrated immunohistochemical staining positive for TTR. Serum screening by isoelectric focusing showed the presence of two variant TTR forms in the absence of wild-type protein. DNA sequencing identified heterozygous T60I (p.T80I; c.239C>T) and V122I (p.V142I; c.424G>A) TTR gene mutations. Mass spectrometry analysis of total protein extracted from a Congo red positive fat pad aspirate demonstrated the presence of both T60I and V122I variant TTR peptides with higher relative abundance of the T60I peptide. The patient died of unknown causes three years after the initial evaluation.
ClinVar Genomic variation as it relates to human health
NM_000371.4(TTR):c.[239C>T];[424G>A]
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(1)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic
1
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
This genotype includes the
following variants
NM_000371.4(TTR):c.[239C>T];[424G>A]
- Other names
- -
- Functional consequence
- -
- Links
- -
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| TTR | - | - |
GRCh38 GRCh37 |
375 | 422 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
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The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (1) |
no assertion criteria provided
|
Feb 15, 2021 | RCV001310260.10 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Feb 15, 2021)
|
no assertion criteria provided
Method: clinical testing
|
Amyloidosis, hereditary systemic 1
(Codominant)
Affected status: yes
Allele origin:
unknown
|
Amyloidosis Center, Boston University School of Medicine
Accession: SCV001486220.1
First in ClinVar: Mar 14, 2021 Last updated: Mar 14, 2021 |
Comment:
A 63-year-old African American female presented with symptoms of atrial fibrillation and congestive heart failure with diastolic dysfunction, autonomic neuropathy, and sensory peripheral neuropathy. A … (more)
A 63-year-old African American female presented with symptoms of atrial fibrillation and congestive heart failure with diastolic dysfunction, autonomic neuropathy, and sensory peripheral neuropathy. A Congo red positive rectal biopsy demonstrated immunohistochemical staining positive for TTR. Serum screening by isoelectric focusing showed the presence of two variant TTR forms in the absence of wild-type protein. DNA sequencing identified heterozygous T60I (p.T80I; c.239C>T) and V122I (p.V142I; c.424G>A) TTR gene mutations. Mass spectrometry analysis of total protein extracted from a Congo red positive fat pad aspirate demonstrated the presence of both T60I and V122I variant TTR peptides with higher relative abundance of the T60I peptide. The patient died of unknown causes three years after the initial evaluation. (less)
Age: 60-69 years
Sex: female
Ethnicity/Population group: African American
Geographic origin: United States
Comment on evidence:
DNA sequencing identified heterozygous T60I (p.T80I; c.239C>T) and V122I (p.V142I; c.424G>A) TTR gene mutations. The TTR Gene Sequencing test is a laboratory developed test (LDT). … (more)
DNA sequencing identified heterozygous T60I (p.T80I; c.239C>T) and V122I (p.V142I; c.424G>A) TTR gene mutations. The TTR Gene Sequencing test is a laboratory developed test (LDT). The Amyloid Center is a CLIA certified for high complexity testing (molecular) through the College of American Pathologists. For each TTR exon, bidirectional DNA sequencing is performed, and full sequence coverage is obtained for each of four exons. (less)
|
Comment:
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
A 63-year-old African American female presented with symptoms of atrial fibrillation and congestive heart failure with diastolic dysfunction, autonomic neuropathy, and sensory peripheral neuropathy. A Congo red positive rectal biopsy demonstrated immunohistochemical staining positive for TTR. Serum screening by isoelectric focusing showed the presence of two variant TTR forms in the absence of wild-type protein. DNA sequencing identified heterozygous T60I (p.T80I; c.239C>T) and V122I (p.V142I; c.424G>A) TTR gene mutations. Mass spectrometry analysis of total protein extracted from a Congo red positive fat pad aspirate demonstrated the presence of both T60I and V122I variant TTR peptides with higher relative abundance of the T60I peptide. The patient died of unknown causes three years after the initial evaluation.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Hereditary Transthyretin Amyloidosis. | Adam MP | - | 2024 | PMID: 20301373 |
| Genotype-Phenotype Correlation of a Rare Transthyretin Variant Causing Amyloidosis. | Chaudhary AG | CJC open | 2022 | PMID: 36562013 |
| Amyloidogenicity assessment of transthyretin gene variants. | Grether NB | Annals of clinical and translational neurology | 2022 | PMID: 35903975 |
| Association of Transthyretin Val122Ile Variant With Incident Heart Failure Among Black Individuals. | Parcha V | JAMA | 2022 | PMID: 35377943 |
| Transthyretin V142I Genetic Variant and Cardiac Remodeling, Injury, and Heart Failure Risk in Black Adults. | Coniglio AC | JACC. Heart failure | 2022 | PMID: 35115086 |
| Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the Transthyretin Amyloidosis Outcomes Survey (THAOS). | Damy T | European heart journal | 2022 | PMID: 30938420 |
| Phenotypic Spectrum of Transthyretin Cardiac Amyloidosis in a Family: Impact of Mutation Zygosity and Sex. | Tushak ZJ | JACC. CardioOncology | 2021 | PMID: 34729535 |
| Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining. | Abouelhoda M | Human genomics | 2021 | PMID: 34380564 |
| Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry. | Parker MM | Scientific reports | 2021 | PMID: 34079032 |
| Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin Amyloidosis. | Soper ER | Journal of personalized medicine | 2021 | PMID: 33467513 |
| Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots. | Auer-Grumbach M | Journal of clinical medicine | 2020 | PMID: 32674397 |
| The mutational constraint spectrum quantified from variation in 141,456 humans. | Karczewski KJ | Nature | 2020 | PMID: 32461654 |
| Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics: Yield and Clinical Significance. | Hoss S | Circulation. Genomic and precision medicine | 2020 | PMID: 32150461 |
| Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging. | Hou YC | Proceedings of the National Academy of Sciences of the United States of America | 2020 | PMID: 31980526 |
| Diagnosis of genetic amyloidosis through the analysis of transthyretin gene mutation using high-resolution melting. | Lahuerta C | International journal of cardiology | 2020 | PMID: 31740141 |
| Prevalence of cardiac amyloidosis among adult patients referred to tertiary centres with an initial diagnosis of hypertrophic cardiomyopathy. | Maurizi N | International journal of cardiology | 2020 | PMID: 31371117 |
| Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry. | Damrauer SM | JAMA | 2019 | PMID: 31821430 |
| Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses. | De Lillo A | Human genetics | 2019 | PMID: 31659433 |
| Prevalence of TTR variants detected by whole-exome sequencing in hypertrophic cardiomyopathy. | Lopes LR | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | 2019 | PMID: 31554435 |
| Cardiac amyloidosis: the need for early diagnosis. | Oerlemans MIFJ | Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation | 2019 | PMID: 31359320 |
| Transthyretin Amyloidosis Presenting With Upper-Extremity Neuropathy and Paucity of Autonomic Impairment. | Devarapalli S | Journal of clinical neuromuscular disease | 2019 | PMID: 31135624 |
| Increased Risk of Multiple Outpatient Surgeries in African-American Carriers of Transthyretin Val122Ile Mutation Is Modulated by Non-Coding Variants. | Polimanti R | Journal of clinical medicine | 2019 | PMID: 30813263 |
| A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants. | Ji J | Cold Spring Harbor molecular case studies | 2019 | PMID: 30755392 |
| A Patient With Hereditary ATTR and a Novel AGel p.Ala578Pro Amyloidosis. | Sridharan M | Mayo Clinic proceedings | 2018 | PMID: 30093168 |
| Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion. | Sheikh N | Circulation | 2018 | PMID: 29764897 |
| The genetic heterogeneity of hereditary transthyretin amyloidosis in a sample of the Brazilian population. | Lavigne-Moreira C | Journal of the peripheral nervous system : JPNS | 2018 | PMID: 29520877 |
| ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. | Gelb BD | Genetics in medicine : official journal of the American College of Medical Genetics | 2018 | PMID: 29493581 |
| Prevalence of mutant ATTR cardiac amyloidosis in elderly African Americans with heart failure. | Arvanitis M | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | 2017 | PMID: 29052438 |
| Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis. | Iorio A | European journal of human genetics : EJHG | 2017 | PMID: 28635949 |
| Transthyretin amyloidosis: a phenocopy of hypertrophic cardiomyopathy. | Vermeer AMC | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | 2017 | PMID: 28475415 |
| Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans. | Buxbaum JN | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 28102864 |
| Phenotypic variability of TTR Val122Ile mutation: a Caucasian patient with axonal neuropathy and normal heart. | Stancanelli C | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2017 | PMID: 27838833 |
| Novel Antibody for the Treatment of Transthyretin Amyloidosis. | Hosoi A | The Journal of biological chemistry | 2016 | PMID: 27758856 |
| Endoplasmic Reticulum Proteostasis Influences the Oligomeric State of an Amyloidogenic Protein Secreted from Mammalian Cells. | Chen JJ | Cell chemical biology | 2016 | PMID: 27720586 |
| The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa. | Jacobson DR | Molecular genetics & genomic medicine | 2016 | PMID: 27652282 |
| Afro-Caribbean Heart Failure in the United Kingdom: Cause, Outcomes, and ATTR V122I Cardiac Amyloidosis. | Dungu JN | Circulation. Heart failure | 2016 | PMID: 27618855 |
| Genotype and Phenotype of Transthyretin Cardiac Amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). | Maurer MS | Journal of the American College of Cardiology | 2016 | PMID: 27386769 |
| Transthyretin Cardiac Amyloidosis in Black Americans. | Shah KB | Circulation. Heart failure | 2016 | PMID: 27188913 |
| Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness. | Damy T | European heart journal | 2016 | PMID: 26537620 |
| The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience. | Cappelli F | Journal of cardiovascular medicine (Hagerstown, Md.) | 2016 | PMID: 26428663 |
| Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans. | Jacobson DR | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | 2015 | PMID: 26123279 |
| Hereditary ATTR amyloidosis: a single-institution experience with 266 patients. | Swiecicki PL | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | 2015 | PMID: 26017327 |
| Hereditary ATTR amyloidosis: a single-institution experience with 266 patients. | Swiecicki PL | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | 2015 | PMID: 26017327 |
| (99m)Tc-HMDP scintigraphy rectifies wrong diagnosis of AL amyloidosis. | Galat A | Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology | 2015 | PMID: 26002815 |
| Differential Myocyte Responses in Patients with Cardiac Transthyretin Amyloidosis and Light-Chain Amyloidosis: A Cardiac MR Imaging Study. | Fontana M | Radiology | 2015 | PMID: 25997029 |
| Differential Myocyte Responses in Patients with Cardiac Transthyretin Amyloidosis and Light-Chain Amyloidosis: A Cardiac MR Imaging Study. | Fontana M | Radiology | 2015 | PMID: 25997029 |
| The Val142Ile transthyretin cardiac amyloidosis: more than an Afro-American pathogenic variant. | Perfetto F | Journal of community hospital internal medicine perspectives | 2015 | PMID: 25846356 |
| Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. | Carr AS | Neuromuscular disorders : NMD | 2015 | PMID: 25819286 |
| The amyloidogenic V122I transthyretin variant in elderly black Americans. | Quarta CC | The New England journal of medicine | 2015 | PMID: 25551524 |
| Amyloidogenic and non-amyloidogenic transthyretin variants interact differently with human cardiomyocytes: insights into early events of non-fibrillar tissue damage. | Manral P | Bioscience reports | 2015 | PMID: 25395306 |
| Isolated heart transplantation for familial transthyretin (TTR) V122I cardiac amyloidosis. | Thenappan T | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | 2014 | PMID: 24818650 |
| An Afro-Caribbean patient with a thick heart. | Dubrey SW | QJM : monthly journal of the Association of Physicians | 2014 | PMID: 24633258 |
| A compound T60A and V122I heterozygosity in the transthyretin gene causing early onset severe cardiac amyloidosis. | Liu YC | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | 2014 | PMID: 24517438 |
| Proteolytic cleavage of Ser52Pro variant transthyretin triggers its amyloid fibrillogenesis. | Mangione PP | Proceedings of the National Academy of Sciences of the United States of America | 2014 | PMID: 24474780 |
| Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life. | Reddi HV | The Journal of molecular diagnostics : JMD | 2014 | PMID: 24184229 |
| Genotype, echocardiography, and survival in familial transthyretin amyloidosis. | Arruda-Olson AM | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | 2013 | PMID: 24131106 |
| Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. | Dohrn MF | Journal of neurology | 2013 | PMID: 24101130 |
| Comparison of cardiac amyloidosis due to wild-type and V122I transthyretin in older adults referred to an academic medical center. | Givens RC | Aging health | 2013 | PMID: 24073013 |
| Familial amyloid polyneuropathy. | Barreiros AP | Digestive diseases (Basel, Switzerland) | 2013 | PMID: 23797140 |
| AG10 inhibits amyloidogenesis and cellular toxicity of the familial amyloid cardiomyopathy-associated V122I transthyretin. | Penchala SC | Proceedings of the National Academy of Sciences of the United States of America | 2013 | PMID: 23716704 |
| Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. | Ihse E | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | 2013 | PMID: 23713495 |
| THAOS - The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis. | Coelho T | Current medical research and opinion | 2013 | PMID: 23193944 |
| An informatics approach to analyzing the incidentalome. | Berg JS | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22995991 |
| Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. | Rapezzi C | European heart journal | 2013 | PMID: 22745357 |
| Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS). | Ruberg FL | American heart journal | 2012 | PMID: 22877808 |
| Aged vervet monkeys developing transthyretin amyloidosis with the human disease-causing Ile122 allele: a valid pathological model of the human disease. | Ueda M | Laboratory investigation; a journal of technical methods and pathology | 2012 | PMID: 22184092 |
| Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant. | Sattianayagam PT | European heart journal | 2012 | PMID: 21992998 |
| Coexistent asymptomatic myeloma and hereditary cardiac amyloidosis: an unusual case of heart failure. | Lee L | British journal of hospital medicine (London, England : 2005) | 2011 | PMID: 22083004 |
| Relation of clinical, echocardiographic and electrocardiographic features of cardiac amyloidosis to the presence of the transthyretin V122I allele in older African-American men. | Jacobson D | The American journal of cardiology | 2011 | PMID: 21600538 |
| A map of human genome variation from population-scale sequencing. | 1000 Genomes Project Consortium | Nature | 2010 | PMID: 20981092 |
| Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies. | Buxbaum J | American heart journal | 2010 | PMID: 20435197 |
| Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis. | Connors LH | American heart journal | 2009 | PMID: 19781421 |
| Prevalence of germline mutations in the TTR gene in a consecutive series of surgical pathology specimens with ATTR amyloid. | Eriksson M | The American journal of surgical pathology | 2009 | PMID: 18830126 |
| Heart transplantation for homozygous familial transthyretin (TTR) V122I cardiac amyloidosis. | Hamour IM | American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons | 2008 | PMID: 18318779 |
| Different disease-causing mutations in transthyretin trigger the same conformational conversion. | Steward RE | Protein engineering, design & selection : PEDS | 2008 | PMID: 18276611 |
| Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. | Schulz AL | Clinical genetics | 2008 | PMID: 18042262 |
| Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. | Gripp KW | American journal of medical genetics. Part A | 2007 | PMID: 17551924 |
| Genetic microheterogeneity of human transthyretin detected by IEF. | Altland K | Electrophoresis | 2007 | PMID: 17503405 |
| Homozygous transthyretin mutation in an African American Male. | Jacob EK | The Journal of molecular diagnostics : JMD | 2007 | PMID: 17251346 |
| Influence of proteinuria on cardiovascular risk and response to angiotensin-converting enzyme inhibition after myocardial infarction. | Jose P | Journal of the American College of Cardiology | 2006 | PMID: 16631015 |
| Transthyretin V122I in African Americans with congestive heart failure. | Buxbaum J | Journal of the American College of Cardiology | 2006 | PMID: 16631014 |
| Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. | Rodriguez-Viciana P | Science (New York, N.Y.) | 2006 | PMID: 16439621 |
| Inclusion-body myositis: clinical, diagnostic, and pathologic aspects. | Engel WK | Neurology | 2006 | PMID: 16432141 |
| A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population. | Yamashita T | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | 2005 | PMID: 16011990 |
| The biological and chemical basis for tissue-selective amyloid disease. | Sekijima Y | Cell | 2005 | PMID: 15820680 |
| The biological and chemical basis for tissue-selective amyloid disease. | Sekijima Y | Cell | 2005 | PMID: 15820680 |
| The hereditary amyloidoses. | Benson MD | Best practice & research. Clinical rheumatology | 2003 | PMID: 15123043 |
| Tabulation of human transthyretin (TTR) variants, 2003. | Connors LH | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | 2003 | PMID: 14640030 |
| Proposed pathogenetic cascade of inclusion-body myositis: importance of amyloid-beta, misfolded proteins, predisposing genes, and aging. | Askanas V | Current opinion in rheumatology | 2003 | PMID: 14569203 |
| Transthyretin Val122Ile, accumulated Abeta, and inclusion-body myositis aspects in cultured muscle. | Askanas V | Neurology | 2003 | PMID: 12874414 |
| Medical errors on an inpatient neurology service. | Frank S | Neurology | 2003 | PMID: 12874413 |
| Newest pathogenetic considerations in inclusion-body myositis: possible role of amyloid-beta, cholesterol, relation to aging and to Alzheimer's disease. | Askanas V | Current rheumatology reports | 2002 | PMID: 12217248 |
| Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. | Lachmann HJ | The New England journal of medicine | 2002 | PMID: 12050338 |
| Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. | Lachmann HJ | The New England journal of medicine | 2002 | PMID: 12050338 |
| The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis. | Jiang X | Proceedings of the National Academy of Sciences of the United States of America | 2001 | PMID: 11752443 |
| Progress in transthyretin fibrillogenesis research strengthens the amyloid hypothesis. | Chakrabartty A | Proceedings of the National Academy of Sciences of the United States of America | 2001 | PMID: 11752419 |
| Transthyretin mutations in hyperthyroxinemia and amyloid diseases. | Saraiva MJ | Human mutation | 2001 | PMID: 11385707 |
| Transthyretin isoleucine-122 mutation in African and American blacks. | Afolabi I | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | 2000 | PMID: 10842715 |
| Inclusion body myositis, muscle blood vessel and cardiac amyloidosis, and transthyretin Val122Ile allele. | Askanas V | Annals of neurology | 2000 | PMID: 10762172 |
| A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient. | Théberge R | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | 1999 | PMID: 10211412 |
| Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. | Jacobson DR | The New England journal of medicine | 1997 | PMID: 9017939 |
| Revised transthyretin Ile 122 allele frequency in African-Americans. | Jacobson DR | Human genetics | 1996 | PMID: 8698351 |
| Transthyretin Ser 6 gene frequency in individuals without amyloidosis. | Jacobson DR | Human genetics | 1995 | PMID: 7868124 |
| Transthyretin Pro 36 associated with familial amyloidotic polyneuropathy in an Ashkenazic Jewish kindred. | Jacobson DR | Human genetics | 1992 | PMID: 1358785 |
| Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. | Jacobson DR | Human genetics | 1992 | PMID: 1351039 |
| Frequency and genetic background of the position 122 (Val----Ile) variant transthyretin gene in the black population. | Jacobson DR | American journal of human genetics | 1991 | PMID: 2063870 |
| Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122). | Nichols WC | The Journal of laboratory and clinical medicine | 1991 | PMID: 2002274 |
| A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90. | Skare JC | Clinical genetics | 1991 | PMID: 1997217 |
| A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology. | Jacobson DR | American journal of human genetics | 1990 | PMID: 2349941 |
| Fibril in senile systemic amyloidosis is derived from normal transthyretin. | Westermark P | Proceedings of the National Academy of Sciences of the United States of America | 1990 | PMID: 2320592 |
| Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant. | Saraiva MJ | Scandinavian journal of immunology | 1990 | PMID: 2237288 |
| Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy. | Gorevic PD | The Journal of clinical investigation | 1989 | PMID: 2646319 |
| A new mutation causing familial amyloidotic polyneuropathy. | Skare JC | Biochemical and biophysical research communications | 1989 | PMID: 2590199 |
| Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy. | Holmgren G | Clinical genetics | 1988 | PMID: 3229002 |
| Senile cardiac amyloidosis with myocardial dysfunction. Diagnosis by endomyocardial biopsy and immunohistochemistry. | Olson LJ | The New England journal of medicine | 1987 | PMID: 3627183 |
| Hereditary amyloidosis: description of a new American kindred with late onset cardiomyopathy. Appalachian amyloid. | Benson MD | Arthritis and rheumatism | 1987 | PMID: 3030336 |
| Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. | Wallace MR | The Journal of clinical investigation | 1986 | PMID: 3722385 |
| Primary systemic amyloidosis. Comparison of melphalan/prednisone versus colchicine. | Kyle RA | The American journal of medicine | 1985 | PMID: 3934968 |
| Benson, M. D. Characterization of an amyloid fibril protein in heredofamilial amyloidosis. (Abstract) Clin. Res. 28: 340A, 1980. | - | - | - | - |
| Buxbaum, J. N. Personal Communication. 1987. New York, N. Y. | - | - | - | - |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TTR | - | - | - | - |
| Snyder, E. L., Nichols, W. C., Liepnieks, J. J., Benson, M. D. Direct evidence for the hereditary nature of senile cardiac (systemic) amyloidosis. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A220, 1989. | - | - | - | - |
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Text-mined citations for this variant ...
HelpRecord last updated Nov 03, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.