ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1334G>A (p.Arg445His)

gnomAD frequency: 0.00014  dbSNP: rs376186052
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Total submissions: 3
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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 RCV000877373 SCV005375416 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-06-13 reviewed by expert panel curation The c.1334G>A (NM_001033855.3) variant in DCLRE1C is a missense variant predicted to cause substitution of Arginine by Histidine at amino acid 445 (p.Arg445His). The filtering allele frequency (the lower threshold of the 95% CI of 58/44884 alleles) of the c.1334G>A variant in DCLRE1C is 0.001026 for East Asian chromosomes by gnomAD v4, which is higher than the ClinGen SCID VCEP threshold (>0.00078) for BS1, and therefore meets this criterion (BS1) To our knowledge, this variant has not been reported in the literature in individuals affected with SCID/DCLRE1C-related conditions or in functional studies. In summary, this variant meets the criteria to be classified as Likely 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: BS1 (VCEP specifications version 1.0).
Labcorp Genetics (formerly Invitae), Labcorp RCV000877373 SCV001020103 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275799 SCV001461360 likely benign Histiocytic medullary reticulosis 2020-04-13 no assertion criteria provided clinical testing

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