ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1558_1559del (p.Lys520fs)

dbSNP: rs2131775466
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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 RCV001967693 SCV002225819 pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2021-04-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys520Alafs*4) in the DCLRE1C gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 173 amino acid(s) of the DCLRE1C protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the DCLRE1C protein. Other variant(s) that disrupt this region (p.Thr557Asnfs*21) have been determined to be pathogenic (PMID: 26476407). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with DCLRE1C-related conditions. This variant is not present in population databases (ExAC no frequency).

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