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NM_000257.4(MYH7):c.1291G>A (p.Val431Met) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 1, 2018
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:
RCV002381431.2

Allele description [Variation Report for NM_000257.4(MYH7):c.1291G>A (p.Val431Met)]

NM_000257.4(MYH7):c.1291G>A (p.Val431Met)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.1291G>A (p.Val431Met)
HGVS:
  • NC_000014.9:g.23429071C>T
  • NG_007884.1:g.11591G>A
  • NM_000257.4:c.1291G>AMANE SELECT
  • NP_000248.2:p.Val431Met
  • LRG_384:g.11591G>A
  • NC_000014.8:g.23898280C>T
Protein change:
V431M
Links:
dbSNP: rs606231322
NCBI 1000 Genomes Browser:
rs606231322
Molecular consequence:
  • NM_000257.4:c.1291G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002689519Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 1, 2018) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

Homburger JR, Green EM, Caleshu C, Sunitha MS, Taylor RE, Ruppel KM, Metpally RP, Colan SD, Michels M, Day SM, Olivotto I, Bustamante CD, Dewey FE, Ho CY, Spudich JA, Ashley EA.

Proc Natl Acad Sci U S A. 2016 Jun 14;113(24):6701-6. doi: 10.1073/pnas.1606950113. Epub 2016 May 31.

PubMed [citation]
PMID:
27247418
PMCID:
PMC4914177

Details of each submission

From Ambry Genetics, SCV002689519.2

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

Description

The p.V431M variant (also known as c.1291G>A), located in coding exon 12 of the MYH7 gene, results from a G to A substitution at nucleotide position 1291. The valine at codon 431 is replaced by methionine, an amino acid with highly similar properties. Another variant affecting this codon (p.V431L, c.1291G>C) has been detected in a hypertrophic cardiomyopathy cohort (Homburger JR et al. Proc Natl Acad Sci USA. 2016;113:6701-6). This amino acid position is well conserved in available vertebrate species; however, methionine is the reference amino acid in other 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: Sep 29, 2024