ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1067C>T (p.Thr356Met) (rs780626687)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685025 SCV000812496 uncertain significance Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-03-05 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 356 of the DSP protein (p.Thr356Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs780626687, ExAC 0.001%). This variant has not been reported in the literature in individuals with DSP-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). A different missense substitution at this codon (p.Thr356Lys) has been reported in a family affected with a DSP-related disease (PMID: 25227139). 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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