ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4099G>A (p.Glu1367Lys)

dbSNP: rs1555336835
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629025 SCV000749935 uncertain significance Hypertrophic cardiomyopathy 2023-06-17 criteria provided, single submitter clinical testing 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: 525042). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1367 of the MYH7 protein (p.Glu1367Lys).
CeGaT Center for Human Genetics Tuebingen RCV002510938 SCV002822119 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing MYH7: PM2, PP2, PP3
Ambry Genetics RCV003302975 SCV004001193 uncertain significance Cardiovascular phenotype 2023-05-17 criteria provided, single submitter clinical testing The p.E1367K variant (also known as c.4099G>A), located in coding exon 28 of the MYH7 gene, results from a G to A substitution at nucleotide position 4099. The glutamic acid at codon 1367 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV003532211 SCV004356814 uncertain significance Cardiomyopathy 2022-05-23 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with lysine at codon 1367 of the MYH7 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified 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.

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