ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2360A>C (p.Tyr787Ser)

dbSNP: rs778350289
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181298 SCV000233589 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001852268 SCV002197316 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2021-02-14 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with DSP-related conditions. ClinVar contains an entry for this variant (Variation ID: 199868). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with serine at codon 787 of the DSP protein (p.Tyr787Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine.

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