ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3583C>A (p.Arg1195Ser)

dbSNP: rs769756450
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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 RCV001066460 SCV001231471 likely benign Hypertrophic cardiomyopathy 14 2024-08-15 criteria provided, single submitter clinical testing
GeneDx RCV001539628 SCV001757423 uncertain significance not provided 2021-06-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 860191; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26582918, 27535533)
Ambry Genetics RCV002339331 SCV002619269 uncertain significance Cardiovascular phenotype 2021-08-23 criteria provided, single submitter clinical testing The p.R1195S variant (also known as c.3583C>A), located in coding exon 24 of the MYH6 gene, results from a C to A substitution at nucleotide position 3583. The arginine at codon 1195 is replaced by serine, an amino acid with dissimilar 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.

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