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NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Mar 20, 2020
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:
RCV001540354.15

Allele description [Variation Report for NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val)]

NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val)

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.3974C>T (p.Ala1325Val)
HGVS:
  • NC_000014.9:g.23418405G>A
  • NG_007884.1:g.22257C>T
  • NM_000257.4:c.3974C>TMANE SELECT
  • NP_000248.2:p.Ala1325Val
  • LRG_384t1:c.3974C>T
  • LRG_384:g.22257C>T
  • NC_000014.8:g.23887614G>A
  • NM_000257.2:c.3974C>T
  • NM_000257.3:c.3974C>T
Protein change:
A1325V
Links:
dbSNP: rs768393069
NCBI 1000 Genomes Browser:
rs768393069
Molecular consequence:
  • NM_000257.4:c.3974C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001474641ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Nov 8, 2019) 		germlineclinical testing

Citation Link,

SCV001758231GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Mar 20, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001474641.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The MYH7 c.3974C>T; p.Ala1325Val variant (rs768393069) is reported in the literature in a single individual from a cohort affected with hypertrophic cardiomyopathy, dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy, though it was not shown to be disease-causing (Walsh 2017). This variant is found on only five chromosomes (5/276736 alleles) in the Genome Aggregation Database. The alanine at codon 1325 is highly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Ala1325Val variant is uncertain at this time. References: Walsh R et al. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2017 Feb;19(2):192-203.

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

From GeneDx, SCV001758231.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Identified in a patient with HCM in the published literature (Walsh et al., 2017); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27532257)

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

Last Updated: Oct 13, 2024