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NM_000257.4(MYH7):c.3152C>T (p.Ala1051Val) AND Cardiomyopathy

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Nov 30, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001183972.6

Allele description [Variation Report for NM_000257.4(MYH7):c.3152C>T (p.Ala1051Val)]

NM_000257.4(MYH7):c.3152C>T (p.Ala1051Val)

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.3152C>T (p.Ala1051Val)
HGVS:
  • NC_000014.9:g.23422273G>A
  • NG_007884.1:g.18389C>T
  • NM_000257.4:c.3152C>TMANE SELECT
  • NP_000248.2:p.Ala1051Val
  • LRG_384t1:c.3152C>T
  • LRG_384:g.18389C>T
  • NC_000014.8:g.23891482G>A
  • NM_000257.2:c.3152C>T
  • NM_000257.3:c.3152C>T
Protein change:
A1051V
Links:
dbSNP: rs727504358
NCBI 1000 Genomes Browser:
rs727504358
Molecular consequence:
  • NM_000257.4:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001349831Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 25, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV004814408All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Nov 30, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown4not providednot provided108544not providedclinical testing

Citations

PubMed

Genetic testing for dilated cardiomyopathy in clinical practice.

Lakdawala NK, Funke BH, Baxter S, Cirino AL, Roberts AE, Judge DP, Johnson N, Mendelsohn NJ, Morel C, Care M, Chung WK, Jones C, Psychogios A, Duffy E, Rehm HL, White E, Seidman JG, Seidman CE, Ho CY.

J Card Fail. 2012 Apr;18(4):296-303. doi: 10.1016/j.cardfail.2012.01.013. Epub 2012 Feb 15.

PubMed [citation]
PMID:
22464770
PMCID:
PMC3666099

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

Gómez J, Lorca R, Reguero JR, Morís C, Martín M, Tranche S, Alonso B, Iglesias S, Alvarez V, Díaz-Molina B, Avanzas P, Coto E.

Circ Cardiovasc Genet. 2017 Apr;10(2). doi:pii: e001584. 10.1161/CIRCGENETICS.116.001584.

PubMed [citation]
PMID:
28356264
See all PubMed Citations (4)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001349831.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This missense variant replaces alanine with valine at codon 1051 of the MYH7 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 28356264, 32894683) and in an individual affected with dilated cardiomyopathy (PMID: 22464770). This variant has been identified in 7/251476 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

From All of Us Research Program, National Institutes of Health, SCV004814408.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (4)

Description

This missense variant replaces alanine with valine at codon 1051 of the MYH7 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 28356264, 32894683) and in an individual affected with dilated cardiomyopathy (PMID: 22464770). This variant has been identified in 7/251476 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided4not providednot providednot provided

Last Updated: Sep 29, 2024