ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1489C>A (p.Leu497Met)

dbSNP: rs1315813996
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000795985 SCV000935470 uncertain significance Hypertrophic cardiomyopathy 14 2021-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388437 SCV002702676 uncertain significance Cardiovascular phenotype 2022-09-16 criteria provided, single submitter clinical testing The p.L497M variant (also known as c.1489C>A), located in coding exon 12 of the MYH6 gene, results from a C to A substitution at nucleotide position 1489. The leucine at codon 497 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. 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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