ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5046dup (p.Leu1683fs)

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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 RCV002944267 SCV003288041 uncertain significance Hypertrophic cardiomyopathy 14 2022-03-18 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with MYH6-related conditions. This variant is present in population databases (rs774030874, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Leu1683Alafs*4) 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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