ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys) (rs28931610)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000610244 SCV000710898 uncertain significance not specified 2016-06-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Arg2366Cy s variant in DSP has been reported in the compound heterozygous state in 1 indiv idual with clinical features of Naxos disease (skin fragility and woolly hair sy ndrome; Whittock 2002), but has not been identified in large population studies. A different amino acid change (p.Arg2366His) at the same codon has been reporte d in the homozygous state in 1 individual with clinical features of Naxos diseas e and segregated with disease in 4 affected family members (Al-Owain 2011). Howe ver, neither family presented with a cardiac phenotype. Computational prediction tools and conservation analysis suggest that the p.Arg2366Cys variant may impac t the protein, though this information is not predictive enough to determine pat hogenicity. When inherited in a recessive manner, variants in DSP can result in ARVC or DCM with woolly hair and keratoderma or other skin findings (Norgett 200 0, Alcalai 2003). In summary, while there is some suspicion for a pathogenic rol e, the clinical significance of the p.Arg2366Cys variant is uncertain.
OMIM RCV000018335 SCV000038614 pathogenic Skin fragility woolly hair syndrome 2002-02-01 no assertion criteria provided literature only

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