ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.481dup (p.Ser161fs)

dbSNP: rs1839622622
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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 RCV001057029 SCV001221498 pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2019-11-21 criteria provided, single submitter clinical testing 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). This sequence change creates a premature translational stop signal (p.Ser161Lysfs*10) 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.

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