ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.556G>C (p.Val186Leu)

gnomAD frequency: 0.00063  dbSNP: rs141448396
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Total submissions: 4
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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 RCV000973998 SCV004810426 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-03-08 reviewed by expert panel curation The c.556G>C (NM_001033855.3) variant in DCLRE1C is a missense variant predicted to cause a substitution of Valine by Leucine at amino acid 186 (p.Val186Leu). The filtering allele frequency (the lower threshold of the 95% CI of 160/75040) of the c.556G>C variant in DCLRE1C is 0.001831 for African/African American chromosomes by gnomAD v4, which is higher than the ClinGen SCID VCEP threshold (>0.00078) for BS1, and therefore meets this criterion (BS1). No homozygotes have been reported. 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: BS1, as specified by the ClinGen SCID VCEP (VCEP specifications version 1).
Labcorp Genetics (formerly Invitae), Labcorp RCV000973998 SCV001121800 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2023-12-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705983 SCV005226946 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001272390 SCV001454374 uncertain significance Histiocytic medullary reticulosis 2020-04-13 no assertion criteria provided clinical testing

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