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NM_000258.3(MYL3):c.170C>T (p.Ala57Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 5, 2023
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:
RCV002397569.2

Allele description [Variation Report for NM_000258.3(MYL3):c.170C>T (p.Ala57Val)]

NM_000258.3(MYL3):c.170C>T (p.Ala57Val)

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.170C>T (p.Ala57Val)
HGVS:
  • NC_000003.12:g.46860813G>A
  • NG_007555.2:g.26357C>T
  • NM_000258.3:c.170C>TMANE SELECT
  • NP_000249.1:p.Ala57Val
  • NP_000249.1:p.Ala57Val
  • LRG_395t1:c.170C>T
  • LRG_395:g.26357C>T
  • LRG_395p1:p.Ala57Val
  • NC_000003.11:g.46902303G>A
  • NM_000258.2:c.170C>T
Protein change:
A57V
Links:
dbSNP: rs139794067
NCBI 1000 Genomes Browser:
rs139794067
Molecular consequence:
  • NM_000258.3:c.170C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002714569Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 5, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Differential contributions of sarcomere and mitochondria-related multigene variants to the endophenotype of hypertrophic cardiomyopathy.

Chung H, Kim Y, Cho SM, Lee HJ, Park CH, Kim JY, Lee SH, Min PK, Yoon YW, Lee BK, Kim WS, Hong BK, Kim TH, Rim SJ, Kwon HM, Choi EY, Lee KA.

Mitochondrion. 2020 Jul;53:48-56. doi: 10.1016/j.mito.2020.04.010. Epub 2020 May 4.

PubMed [citation]
PMID:
32380161

Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing.

Magrì D, Mastromarino V, Gallo G, Zachara E, Re F, Agostoni P, Giordano D, Rubattu S, Forte M, Cotugno M, Torrisi MR, Petrucci S, Germani A, Savio C, Maruotti A, Volpe M, Autore C, Piane M, Musumeci B.

J Clin Med. 2020 May 28;9(6). doi:pii: E1636. 10.3390/jcm9061636.

PubMed [citation]
PMID:
32481709
PMCID:
PMC7356142

Details of each submission

From Ambry Genetics, SCV002714569.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.A57V variant (also known as c.170C>T), located in coding exon 3 of the MYL3 gene, results from a C to T substitution at nucleotide position 170. The alanine at codon 57 is replaced by valine, an amino acid with similar properties. This alteration has been reported in association with hypertrophic cardiomyopathy (HCM) (Magrì D et al. J Clin Med, 2020 May;9:; Chung H et al. Mitochondrion, 2020 Jul;53:48-56). This amino acid position is well 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024