ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys)

gnomAD frequency: 0.00001  dbSNP: rs139969658
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181351 SCV000233651 uncertain significance not provided 2022-07-12 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002444729 SCV002676712 uncertain significance Cardiovascular phenotype 2022-06-06 criteria provided, single submitter clinical testing The p.R2826C variant (also known as c.8476C>T), located in coding exon 24 of the DSP gene, results from a C to T substitution at nucleotide position 8476. The arginine at codon 2826 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002485192 SCV002784145 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 2022-04-05 criteria provided, single submitter clinical testing
Invitae RCV002515308 SCV003276992 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-11-10 criteria provided, single submitter clinical testing

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