ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1894G>A (p.Glu632Lys)

gnomAD frequency: 0.00006  dbSNP: rs61757205
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Total submissions: 5
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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 RCV000946402 SCV004242288 benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-23 reviewed by expert panel curation The c.1894G>A (NM_001033855.3) variant in DCLRE1C is a missense variant predicted to cause substitution of Glutamic Acid by Lysine at amino acid 632 (p.Glu632Lys). The filtering allele frequency (the lower threshold of the 95% CI of 431/91076) of the c.1894G>A variant in DCLRE1C is 0.004306 for South Asian chromosomes by gnomAD v4, which is higher than the ClinGen SCID VCEP threshold (>0.00346) for BA1, and therefore meets this criterion (BA1). Additionally, 6 adult homozygous have been reported in the same population (BS2_Supporting). In summary, this variant meets the criteria to be classified as Benign for autosomal recessive severe combined immunodeficiency due to DCLRE1C deficiency, based on the ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP. Criteria applied: BA1 and BS2_Supporting (VCEP specifications version 1).
Eurofins Ntd Llc (ga) RCV000734288 SCV000862418 likely benign not specified 2018-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000946402 SCV001092532 benign Severe combined immunodeficiency due to DCLRE1C deficiency 2025-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001540740 SCV001758658 likely benign not provided 2015-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004758050 SCV005354038 benign DCLRE1C-related disorder 2024-08-31 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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