ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter)

dbSNP: rs1589136659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen RCV000988332 SCV004242289 likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-23 reviewed by expert panel curation The NM_001033855.3:c.206T>A (p.Leu69Ter) variant in DCLRE1C is a nonsense variant predicted to cause a premature stop codon in biologically relevant exon, 3/14, which is predicted to lead to nonsense-mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1). This variant is absent from gnomAD v4 (PM2_Supporting). To our knowledge, this variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions or in functional studies. In summary, this variant meets the criteria to be classified as Likely Pathogenic for autosomal recessive severe combined immunodeficiency due to DCLRE1C deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP: PM2_Supporting and PVS1 (VCEP specifications version 1).
Mendelics RCV000988332 SCV001138005 pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2019-05-28 criteria provided, single submitter clinical testing

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