ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.1747C>T (p.Arg583Ter) (rs765191680)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468212 SCV000550843 uncertain significance Hypertrophic cardiomyopathy 2019-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 583 (p.Arg583*) of the MYOM1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs765191680, ExAC 0.03%) but has not been reported in the literature in individuals with a MYOM1-related disease. Loss-of-function variants in MYOM1 have not been definitively established to cause disease. Therefore, without sufficient clinical and genetic evidence, this variant has been classified as a Variant of Uncertain Significance.

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