ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3088G>C (p.Glu1030Gln)

gnomAD frequency: 0.00001  dbSNP: rs779155360
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689058 SCV000816695 uncertain significance Hypertrophic cardiomyopathy 14 2023-05-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1030 of the MYH6 protein (p.Glu1030Gln). This variant is present in population databases (rs779155360, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 568635). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MYH6 protein function. 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.
Ambry Genetics RCV002325369 SCV002608853 uncertain significance Cardiovascular phenotype 2021-09-17 criteria provided, single submitter clinical testing The c.3088G>C (p.E1030Q) alteration is located in exon 23 (coding exon 21) of the MYH6 gene. This alteration results from a G to C substitution at nucleotide position 3088, causing the glutamic acid (E) at amino acid position 1030 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004588110 SCV005078470 uncertain significance not provided 2023-11-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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