ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1707G>C (p.Gln569His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051992 SCV001216177 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-06-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 569 of the DSG2 protein (p.Gln569His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs370097438, ExAC 0.006%). 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 output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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 RCV001182990 SCV001348634 likely benign Cardiomyopathy 2018-12-03 criteria provided, single submitter clinical testing

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