ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.375del (p.Glu126fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809932 SCV000950115 uncertain significance Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2018-08-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu116Argfs*66) in the TNNT2 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 TNNT2-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TNNT2 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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