ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5085_5086AG[1] (p.Glu1696fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811989 SCV000952287 uncertain significance Hypertrophic cardiomyopathy 2018-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1696Alafs*12) in the MYH7 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYH7-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH7 cause disease. 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.

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