ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1628_1632del (p.Ile543fs)

dbSNP: rs767758218
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780917 SCV002024028 likely pathogenic not provided 2021-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034585 SCV002238687 pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2023-09-03 criteria provided, single submitter clinical testing This variant is present in population databases (rs767758218, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Ile543Argfs*12) in the DCLRE1C gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 150 amino acid(s) of the DCLRE1C protein. 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. ClinVar contains an entry for this variant (Variation ID: 1324212). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions.
Baylor Genetics RCV004571097 SCV005059359 likely pathogenic Histiocytic medullary reticulosis 2024-02-09 criteria provided, single submitter clinical testing

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