ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg)

dbSNP: rs397516707
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002504891 SCV002816547 uncertain significance Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 2021-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513475 SCV003443784 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-08-09 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on DSG2 function (PMID: 23128240). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 44311). This missense change has been observed in individual(s) with DSG2-related conditions (PMID: 20857253). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 1047 of the DSG2 protein (p.Thr1047Arg).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037299 SCV000060956 uncertain significance not specified 2008-05-23 no assertion criteria provided clinical testing

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