NM_000258.3(MYL3):c.187C>T (p.Arg63Cys) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 23, 2017
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:: RCV000617865.3

Allele description [Variation Report for NM_000258.3(MYL3):c.187C>T (p.Arg63Cys)]

NM_000258.3(MYL3):c.187C>T (p.Arg63Cys)

Gene:

MYL3:myosin light chain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_000258.3(MYL3):c.187C>T (p.Arg63Cys)

HGVS:

NC_000003.12:g.46860796G>A
NG_007555.2:g.26374C>T
NM_000258.3:c.187C>TMANE SELECT
NP_000249.1:p.Arg63Cys
NP_000249.1:p.Arg63Cys
LRG_395t1:c.187C>T
LRG_395:g.26374C>T
LRG_395p1:p.Arg63Cys
NC_000003.11:g.46902286G>A
NM_000258.2:c.187C>T

Protein change:

R63C

Links:

dbSNP: rs565312070

NCBI 1000 Genomes Browser:

rs565312070

Molecular consequence:

NM_000258.3:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000737020	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 23, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000737020

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 23, 2017)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan.

Chiou KR, Chu CT, Charng MJ.

J Cardiol. 2015 Mar;65(3):250-6. doi: 10.1016/j.jjcc.2014.05.010. Epub 2014 Jul 30.

PubMed [citation]

PMID:: 25086479

Details of each submission

From Ambry Genetics, SCV000737020.5

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

Description

The p.R63C variant (also known as c.187C>T), located in coding exon 3 of the MYL3 gene, results from a C to T substitution at nucleotide position 187. The arginine at codon 63 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration has been identified in a patient with hypertrophic cardiomyopathy and reported to co-segregate with disease in one family member (Chiou KR et al. J Cardiol, 2015 Mar;65:250-6). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024

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