ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1865T>C (p.Leu622Pro)

dbSNP: rs1554107098
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005222913 SCV005863470 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-03-20 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 622 of the DSP protein (p.Leu622Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant DSP-related cardiomyopathy with wooly hair and palmoplantar keratoderma syndrome (PMID: 26604139, 26833927). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 372127). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects DSP function (PMID: 26604139). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000412530 SCV000490196 pathogenic Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2016-11-22 no assertion criteria provided literature only

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