ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8531G>T (p.Gly2844Val) (rs374137476)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181352 SCV000233652 uncertain significance not provided 2018-09-13 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DSP gene. The G2844V variant has been reported in one patient with ARVC, however the variant did not segregate in biopsy samples from two out of the three affected family members who died from sudden cardiac death and who were found to have ARVC on autopsy (Klauke et al., 2010). The G2844V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Nevertheless, the G2844V variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Finally, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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