ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.184_191del (p.Ser62fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466131 SCV004190924 likely pathogenic Histiocytic medullary reticulosis 2022-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003611652 SCV004433271 pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2023-06-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser62Aspfs*2) in the DCLRE1C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DCLRE1C are known to be pathogenic (PMID: 21664875, 26123418). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. This variant is not present in population databases (gnomAD no frequency).

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