ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) (rs374263890)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208250 SCV000263872 uncertain significance Ventricular fibrillation 2015-03-04 criteria provided, single submitter clinical testing
Invitae RCV000465636 SCV000543265 uncertain significance Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-09-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1045 of the DSP protein (p.Arg1045Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs374263890, ExAC 0.05%) but has not been reported in the literature in individuals with a DSP-related disease. ClinVar contains an entry for this variant (Variation ID: 222577). 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"). In summary, this variant is a rare missense change with uncertain impact on 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.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852571 SCV000995272 uncertain significance Cardiomyopathy 2018-06-26 criteria provided, single submitter clinical testing

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