ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3531del (p.Arg1178fs)

dbSNP: rs778757030
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001901163 SCV002166098 uncertain significance Hypertrophic cardiomyopathy 14 2022-08-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MYH6-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 1395417). This variant is present in population databases (rs778757030, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg1178Glyfs*38) 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.

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