ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2680A>T (p.Asn894Tyr)

dbSNP: rs1060500614
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472242 SCV000543254 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2016-09-21 criteria provided, single submitter clinical testing This sequence change replaces asparagine with tyrosine at codon 894 of the DSP protein (p.Asn894Tyr). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and tyrosine. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. 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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DSP-related disease.

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