ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.780+1del

dbSNP: rs786205074
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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 RCV000004935 SCV002236251 pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2020-11-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with severe combined immunodeficiency (PMID: 11336668). This variant is also known as c.780+1delG and G818. ClinVar contains an entry for this variant (Variation ID: 4671). This variant is present in population databases (rs762696311, ExAC 0.003%). This sequence change creates a premature translational stop signal (p.Ala261Glnfs*24) 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).
OMIM RCV000004935 SCV000025111 pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2001-04-20 no assertion criteria provided literature only

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