ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5228A>G (p.Glu1743Gly)

dbSNP: rs1892152784
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058090 SCV001222633 uncertain significance Hypertrophic cardiomyopathy 2023-01-13 criteria provided, single submitter clinical testing 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). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1743 of the MYH7 protein (p.Glu1743Gly). ClinVar contains an entry for this variant (Variation ID: 853307). 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.
Ambry Genetics RCV002339289 SCV002640639 uncertain significance Cardiovascular phenotype 2018-10-03 criteria provided, single submitter clinical testing The p.E1743G variant (also known as c.5228A>G), located in coding exon 34 of the MYH7 gene, results from an A to G substitution at nucleotide position 5228. The glutamic acid at codon 1743 is replaced by glycine, an amino acid with similar properties. This amino acid position is well 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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