ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) (rs146402368)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181233 SCV000233512 uncertain significance not provided 2018-02-26 criteria provided, single submitter clinical testing The P927L variant has been reported in one patient with sudden arrhythmogenic death syndrome (Hata et al., 2016). Ohno et al. (2013) reported this variant in one patient with a possible diagnosis of ARVC and in a patient with a definitive diagnosis of ARVC; however, the latter patient also harbored a nonsense variant in the PKP2 gene. The P927L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Nevertheless, this variant is observed in the Exome Aggregation Consortium (ExAC) data set in 49/17240 (0.28%) alleles from individuals of East Asian ancestry, suggesting it may be a benign variant (Lek et al., 2016).
Invitae RCV001081796 SCV000641976 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-11-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001081796 SCV001287046 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2019-07-23 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color Health, Inc RCV001188882 SCV001356054 likely benign Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing

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