ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3448G>A (p.Glu1150Lys)

gnomAD frequency: 0.00003  dbSNP: rs760399050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172028 SCV000054812 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001054318 SCV001218627 uncertain significance Hypertrophic cardiomyopathy 14 2023-04-14 criteria provided, single submitter clinical testing 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 MYH6 protein function. ClinVar contains an entry for this variant (Variation ID: 191716). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. This variant is present in population databases (rs760399050, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1150 of the MYH6 protein (p.Glu1150Lys). 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 RCV002453596 SCV002617155 uncertain significance Cardiovascular phenotype 2022-03-08 criteria provided, single submitter clinical testing The p.E1150K variant (also known as c.3448G>A), located in coding exon 24 of the MYH6 gene, results from a G to A substitution at nucleotide position 3448. The glutamic acid at codon 1150 is replaced by lysine, an amino acid with similar properties. This alteration has been reported as a secondary cardiac variant in an exome cohort; however, clinical details are limited (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). 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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