ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter)

dbSNP: rs1589050343
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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 RCV000824500 SCV000965400 pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2022-06-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 666082). 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). This sequence change creates a premature translational stop signal (p.Gln252*) 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).
Baylor Genetics RCV003467525 SCV004190925 likely pathogenic Histiocytic medullary reticulosis 2022-01-28 criteria provided, single submitter clinical testing

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