ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1752_1784del (p.Gln584_Leu594del) (rs1333431543)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702348 SCV000831200 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2018-05-25 criteria provided, single submitter clinical testing This variant, c.1752_1784delGGTCCTTACACTCACAGTTTGTGAGTGTCTGCA, results in the deletion of 11 amino acid(s) of the DSG2 protein (p.Gln584_Leu594del), 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 DSG2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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.
GeneDx RCV001571015 SCV001795406 uncertain significance not provided 2019-09-13 no assertion criteria provided clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 579139; Landrum et al., 2016); In-frame deletion of 11 amino acids in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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