ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2638A>C (p.Asn880His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV001179888 SCV001344688 uncertain significance Cardiomyopathy 2018-12-11 criteria provided, single submitter clinical testing
Invitae RCV001244761 SCV001418005 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2019-08-20 criteria provided, single submitter clinical testing This sequence change replaces asparagine with histidine at codon 880 of the DSG2 protein (p.Asn880His). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and histidine. This variant is present in population databases (rs745617885, ExAC 0.03%). This variant has not been reported in the literature in individuals with DSG2-related conditions. 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 tolerated, 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.

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