ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3578C>T (p.Ala1193Val)

dbSNP: rs1038940910
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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 RCV001058786 SCV001223379 uncertain significance Hypertrophic cardiomyopathy 14 2023-03-29 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 not expected to disrupt MYH6 protein function. ClinVar contains an entry for this variant (Variation ID: 853879). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1193 of the MYH6 protein (p.Ala1193Val).
Ambry Genetics RCV002451244 SCV002613573 uncertain significance Cardiovascular phenotype 2024-09-09 criteria provided, single submitter clinical testing The p.A1193V variant (also known as c.3578C>T), located in coding exon 24 of the MYH6 gene, results from a C to T substitution at nucleotide position 3578. The alanine at codon 1193 is replaced by valine, an amino acid with similar properties. This missense alteration is located in a region that has a low rate of benign missense variation (Lek M et al. Nature. 2016 Aug 18;536(7616):285-91; DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources. Firth H.V. et al. 2009. Am.J.Hum.Genet. 84, 524-533 (DOI: dx.doi.org/10/1016/j.ajhg.2009.03.010)). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002489655 SCV002784294 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-08-20 criteria provided, single submitter clinical testing

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