ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1442del (p.Lys481fs)

dbSNP: rs2131776743
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002535 SCV002237045 pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2021-09-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys481Argfs*63) in the DCLRE1C gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 212 amino acid(s) of the DCLRE1C protein.
Baylor Genetics RCV003475218 SCV004190918 likely pathogenic Histiocytic medullary reticulosis 2022-11-21 criteria provided, single submitter clinical testing

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