ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.354G>A (p.Ser118=)

gnomAD frequency: 0.00002  dbSNP: rs373427673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170477 SCV001333057 likely benign Cardiomyopathy 2018-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002558709 SCV003285413 likely benign Hypertrophic cardiomyopathy 14 2025-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163372 SCV003855206 uncertain significance Cardiovascular phenotype 2023-03-01 criteria provided, single submitter clinical testing The c.354G>A variant (also known as p.S118S), located in coding exon 3 of the MYH6 gene, results from a G to A substitution at nucleotide position 354. This nucleotide substitution does not change the serine at codon 118. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis 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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