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NM_000257.4(MYH7):c.2585C>T (p.Ala862Val) AND Cardiomyopathy

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 4, 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:
RCV001184308.14

Allele description [Variation Report for NM_000257.4(MYH7):c.2585C>T (p.Ala862Val)]

NM_000257.4(MYH7):c.2585C>T (p.Ala862Val)

Genes:
LOC126861898:BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 [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.2585C>T (p.Ala862Val)
HGVS:
  • NC_000014.9:g.23424863G>A
  • NG_007884.1:g.15799C>T
  • NM_000257.4:c.2585C>TMANE SELECT
  • NP_000248.2:p.Ala862Val
  • LRG_384t1:c.2585C>T
  • LRG_384:g.15799C>T
  • NC_000014.8:g.23894072G>A
  • NM_000257.2:c.2585C>T
  • NM_000257.3:c.2585C>T
Protein change:
A862V
Links:
dbSNP: rs149576470
NCBI 1000 Genomes Browser:
rs149576470
Molecular consequence:
  • NM_000257.4:c.2585C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
7

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
SCV001350257Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

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

PubMed (7)
[See all records that cite these PMIDs]

SCV004818615All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Sep 4, 2023) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown7not providednot provided108544not providedclinical testing

Citations

PubMed

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

Santos S, Marques V, Pires M, Silveira L, Oliveira H, Lança V, Brito D, Madeira H, Esteves JF, Freitas A, Carreira IM, Gaspar IM, Monteiro C, Fernandes AR.

BMC Med Genet. 2012 Mar 19;13:17. doi: 10.1186/1471-2350-13-17.

PubMed [citation]
PMID:
22429680
PMCID:
PMC3359199

Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.

Ingles J, Burns C, Bagnall RD, Lam L, Yeates L, Sarina T, Puranik R, Briffa T, Atherton JJ, Driscoll T, Semsarian C.

Circ Cardiovasc Genet. 2017 Apr;10(2). doi:pii: e001620. 10.1161/CIRCGENETICS.116.001620.

PubMed [citation]
PMID:
28408708
See all PubMed Citations (7)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001350257.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This missense variant replaces alanine with valine at codon 862 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: 22429680, 28408708, 32894683). It has also been reported in an individual affected with dilated cardiomyopathy (PMID: 34935411), in an individual affected with left ventricular noncompaction (PMID: 35026164), and in an individual affected with sudden death and suspected hypertrophic cardiomyopathy (PMID: 32361481). This variant has been identified in 8/282828 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, SCV004818615.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedclinical testing PubMed (7)

Description

This missense variant replaces alanine with valine at codon 862 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: 22429680, 28408708, 32894683). It has also been reported in an individual affected with dilated cardiomyopathy (PMID: 34935411), in an individual affected with left ventricular noncompaction (PMID: 35026164), and in an individual affected with sudden death and suspected hypertrophic cardiomyopathy (PMID: 32361481). This variant has been identified in 8/282828 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 provided7not providednot providednot provided

Last Updated: Jul 23, 2024