ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.2317dup (p.Ile773fs)

gnomAD frequency: 0.00006  dbSNP: rs762570567
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796960 SCV000936496 uncertain significance Hypertrophic cardiomyopathy 2018-12-17 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYOM1 cause disease. This variant has not been reported in the literature in individuals with MYOM1-related conditions. This variant is present in population databases (rs762570567, ExAC 0.009%). This sequence change creates a premature translational stop signal (p.Ile773Asnfs*15) in the MYOM1 gene. It is expected to result in an absent or disrupted protein product.

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