NM_000371.4(TTR):c.148G>C (p.Val50Leu) AND Charcot-Marie-Tooth disease

Germline classification:: Pathogenic (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001173291.1

Allele description [Variation Report for NM_000371.4(TTR):c.148G>C (p.Val50Leu)]

NM_000371.4(TTR):c.148G>C (p.Val50Leu)

Gene:

TTR:transthyretin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_000371.4(TTR):c.148G>C (p.Val50Leu)

Other names:

V30L

HGVS:

NC_000018.10:g.31592974G>C
NG_009490.1:g.6208G>C
NM_000371.4:c.148G>CMANE SELECT
NP_000362.1:p.Val50Leu
NP_000362.1:p.Val50Leu
LRG_416t1:c.148G>C
LRG_416:g.6208G>C
LRG_416p1:p.Val50Leu
NC_000018.9:g.29172937G>C
NM_000371.3:c.148G>C
P02766:p.Val50Leu

Protein change:

V50L; VAL30LEU

Links:

UniProtKB: P02766#VAR_007553; OMIM: 176300.0024; dbSNP: rs28933979

NCBI 1000 Genomes Browser:

rs28933979

Molecular consequence:

NM_000371.4:c.148G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease
Synonyms:: Charcot-Marie-Tooth Neuropathy
Identifiers:: MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001336375	Molecular Genetics Laboratory, London Health Sciences Centre	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001336375

Molecular Genetics Laboratory, London Health Sciences Centre

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Molecular Genetics Laboratory, London Health Sciences Centre, SCV001336375.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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