ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.3968del (p.Gly1323fs)

dbSNP: rs1377047086
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235267 SCV001407946 uncertain significance Hypertrophic cardiomyopathy 2019-07-30 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 not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly1323Glufs*42) in the MYOM1 gene. It is expected to result in an absent or disrupted protein product.

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