NM_000257.4(MYH7):c.29G>C (p.Gly10Ala) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 2, 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:: RCV004019920.1

Allele description [Variation Report for NM_000257.4(MYH7):c.29G>C (p.Gly10Ala)]

NM_000257.4(MYH7):c.29G>C (p.Gly10Ala)

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.29G>C (p.Gly10Ala)

Other names:

p.G10A:GGG>GCG; NM_000257.4(MYH7):c.29G>C; p.Gly10Ala

HGVS:

NC_000014.9:g.23433704C>G
NG_007884.1:g.6958G>C
NM_000257.4:c.29G>CMANE SELECT
NP_000248.2:p.Gly10Ala
LRG_384t1:c.29G>C
LRG_384:g.6958G>C
NC_000014.8:g.23902913C>G
NM_000257.2:c.29G>C
NM_000257.3:c.29G>C

Protein change:

G10A

Links:

dbSNP: rs730880826

NCBI 1000 Genomes Browser:

rs730880826

Molecular consequence:

NM_000257.4:c.29G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005033848	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 2, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005033848

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 2, 2023)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.

Stava TT, Leren TP, Bogsrud MP.

Eur J Prev Cardiol. 2022 Oct 18;29(13):1789-1799. doi: 10.1093/eurjpc/zwac102.

PubMed [citation]

PMID:: 35653365

Details of each submission

From Ambry Genetics, SCV005033848.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The p.G10A variant (also known as c.29G>C), located in coding exon 1 of the MYH7 gene, results from a G to C substitution at nucleotide position 29. The glycine at codon 10 is replaced by alanine, an amino acid with similar properties. This variant has been detected in a cardiomyopathy cohort; however, details were not provided (Stava TT et al. Eur J Prev Cardiol, 2022 Oct;29:1789-1799). This amino acid position is highly 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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