ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2432T>C (p.Leu811Pro)

dbSNP: rs869025391
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208448 SCV000263870 uncertain significance Primary dilated cardiomyopathy 2015-05-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764659 SCV000895783 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001853299 SCV002138398 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2021-08-07 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 222575). This variant has not been reported in the literature in individuals affected with DSP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 811 of the DSP protein (p.Leu811Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
GeneDx RCV003153489 SCV003842483 uncertain significance not provided 2023-03-16 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

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