ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1258C>T (p.Gln420Ter)

gnomAD frequency: 0.00001  dbSNP: rs773659892
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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 RCV002047462 SCV002116220 uncertain significance Hypertrophic cardiomyopathy 14 2024-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln420*) in the MYH6 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH6 cause disease. This variant is present in population databases (rs773659892, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1352254). 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.
Revvity Omics, Revvity RCV003132555 SCV003809570 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing

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