ClinVar Miner

Submissions for variant NC_000010.10:g.(?_14953179)_(14961841_?)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 RCV001382012 SCV001580600 pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2021-08-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 13 of the DCLRE1C gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. This variant disrupts a region of the DCLRE1C protein in which other variant(s) (p.Asp451Lysfs*11) have been determined to be pathogenic (PMID: 12569164, 19953608, 21147755, 25917813). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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