ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3697G>A (p.Val1233Ile)

gnomAD frequency: 0.00002  dbSNP: rs144761217
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001919799 SCV002160591 uncertain significance Hypertrophic cardiomyopathy 14 2022-01-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1233 of the MYH6 protein (p.Val1233Ile).
Ambry Genetics RCV002343979 SCV002621862 uncertain significance Cardiovascular phenotype 2023-05-15 criteria provided, single submitter clinical testing The p.V1233I variant (also known as c.3697G>A), located in coding exon 24 of the MYH6 gene, results from a G to A substitution at nucleotide position 3697. The valine at codon 1233 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002506981 SCV002813311 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-10-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331226 SCV004038098 uncertain significance not specified 2023-08-19 criteria provided, single submitter clinical testing

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