ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1543G>T (p.Gly515Ter)

dbSNP: rs1419439468
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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 RCV001883449 SCV002143247 pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2023-08-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 1378789). This variant disrupts a region of the DCLRE1C protein in which other variant(s) (p.Thr557Asnfs*21) have been determined to be pathogenic (PMID: 26476407). 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. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly515*) in the DCLRE1C gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 178 amino acid(s) of the DCLRE1C protein.

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