ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5411C>G (p.Ala1804Gly)

dbSNP: rs970169331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628986 SCV000749896 uncertain significance Hypertrophic cardiomyopathy 2022-11-11 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1804 of the MYH7 protein (p.Ala1804Gly). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYH7 protein function. ClinVar contains an entry for this variant (Variation ID: 525019). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV002343190 SCV002653982 uncertain significance Cardiovascular phenotype 2020-01-28 criteria provided, single submitter clinical testing The p.A1804G variant (also known as c.5411C>G), located in coding exon 35 of the MYH7 gene, results from a C to G substitution at nucleotide position 5411. The alanine at codon 1804 is replaced by glycine, an amino acid with similar properties. An alternative substitution at this codon, p.A1804T, was reported in a cardiomyopathy cohort; however, clinical details were limited (Forleo C et al. PLoS ONE, 2017 Jul;12:e0181842). 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.

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