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NM_000371.4(TTR):c.212_217dup (p.Glu71_Ser72dup) AND Amyloidosis, hereditary systemic 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 16, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000663430.1

Allele description [Variation Report for NM_000371.4(TTR):c.212_217dup (p.Glu71_Ser72dup)]

NM_000371.4(TTR):c.212_217dup (p.Glu71_Ser72dup)

Gene:
TTR:transthyretin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_000371.4(TTR):c.212_217dup (p.Glu71_Ser72dup)
HGVS:
  • NC_000018.10:g.31595131_31595136dup
  • NG_009490.1:g.8365_8370dup
  • NM_000371.4:c.212_217dupMANE SELECT
  • NP_000362.1:p.Glu71_Ser72dup
  • LRG_416:g.8365_8370dup
  • NC_000018.9:g.29175094_29175099dup
  • NM_000371.3:c.212_217dupAGTCTG
Links:
dbSNP: rs1555631390
NCBI 1000 Genomes Browser:
rs1555631390
Molecular consequence:
  • NM_000371.4:c.212_217dup - inframe_insertion - [Sequence Ontology: SO:0001821]
Functional consequence:
variation affecting protein structure [Variation Ontology: 0060]
Observations:
1

Condition(s)

Name:
Amyloidosis, hereditary systemic 1 (AMYLD1)
Synonyms:
Amyloidosis Transthyretin related; Amyloid polyneuropathy transthyretin related; Transthyretin amyloidosis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0971004; MedGen: C2751492; Orphanet: 85447; Orphanet: 85451; OMIM: 105210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000778367Amyloidosis Center, Boston University School of Medicine
no assertion criteria provided
Pathogenic
(Mar 16, 2018) 		inheritedclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
African Americaninheritedyes31not providednot providednot providedclinical testing

Citations

PubMed

Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease.

Klimtchuk ES, Prokaeva T, Frame NM, Abdullahi HA, Spencer B, Dasari S, Cui H, Berk JL, Kurtin PJ, Connors LH, Gursky O.

Proc Natl Acad Sci U S A. 2018 Jul 10;115(28):E6428-E6436. doi: 10.1073/pnas.1802977115. Epub 2018 Jun 25.

PubMed [citation]
PMID:
29941560
PMCID:
PMC6048550

Details of each submission

From Amyloidosis Center, Boston University School of Medicine, SCV000778367.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African American3not providednot providedclinical testing PubMed (1)

Description

A 37 year old African American man presented with sensorimotor polyneuropathy, and myopathy in his lower extremities. Deposits of variant TTR were detected in the right shin skin using tandem mass spectrometry. A fat aspirate was Congo red positive for amyloid deposits, the patient's brother was also diagnosed with amyloidosis by sural nerve biopsy. Following nine months of diflunisal treatment (250mg/daily), the patient demonstrated progression of sensorimotor polyneuropathy, and also autonomic neuropathy. Diflunisal treatment was stopped due to lack of efficacy. The patient was found to have a six base pair duplication in TTR exon 3 (c.212_217dupAGTCTG) by DNA sequencing of the TTR gene. The patient died from recurrent aspiration pneumonia, debilitating peripheral and autonomic neuropathy.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided3not provided1not provided

Last Updated: Aug 25, 2024