ClinVar Miner

Submissions for variant NC_000006.11:g.(?_31926951)_(31937529_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004800801 SCV005422625 pathogenic Trichohepatoenteric syndrome 2024-10-21 criteria provided, single submitter clinical testing Variant summary: The variant involves the deletion of exons 1-28 in the SKIC2 gene. A presumed nomenclature of c.(?_-19)_(*37_?)del has been designated for the purposes of this classification. This deletion includes the entire coding sequence of the gene. As the exact proximal and distal breakpoints are unknown, it may extend beyond the annotated region of the gene to include other flanking genes. LoF is a known disease mechanism for SKIC2-related Trichohepatoenteric syndrome 2 (PMID: 22444670). The variant was absent in 20614 control chromosomes (gnomAD SV v2). To our knowledge, no occurrence of c.(?_-19)_(*37_?)del in individuals affected with Trichohepatoenteric Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 3246209). Based on the evidence outlined above, the variant was classified as pathogenic.

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