ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1418C>T (p.Ser473Leu) (rs774607590)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806439 SCV000946439 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2019-05-03 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 473 of the DSG2 protein (p.Ser473Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs774607590, ExAC 0.01%). This variant has not been reported in the literature in individuals with DSG2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Color Health, Inc RCV001183020 SCV001348667 uncertain significance Cardiomyopathy 2019-10-02 criteria provided, single submitter clinical testing

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