ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.617_634dup (p.194_199KQSTAS[4]) (rs755975362)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551918 SCV000623855 uncertain significance Hypertrophic cardiomyopathy 2017-06-15 criteria provided, single submitter clinical testing This variant, c.617_634dup, results in the insertion of 6 amino acids to the MYOM1 protein (p.Lys206_Ser211dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a MYOM1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, this variant has uncertain impact on MYOM1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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