ClinVar Miner

Submissions for variant NC_000006.11:g.(?_7532151)_(7559633_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004578646 SCV005066147 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2020-05-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139). This variant has not been reported in the literature in individuals with DSP-related conditions. This variant is a complex rearrangement that results in the deletion of exons 1, 3 and 4 and inversion of exon 2 of the DSP gene. Although the exact nature of this event is unknown, it is expected to result in an absent or disrupted protein product.

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