ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1691C>T (p.Thr564Ile)

dbSNP: rs606231295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995757 SCV001150088 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2019-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764879 SCV004569797 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-04-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 564 of the DSP protein (p.Thr564Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with arrhythmogenic right ventricular cardiomyopathy and/or autosomal dominant dilated cardiomyopathy (DCM) with woolly hair, keratoderma and tooth agenesis (PMID: 22795705, 22949226, 33460606, 34766015). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 157673).
OMIM RCV000144961 SCV000191988 pathogenic Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2012-11-01 no assertion criteria provided literature only

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