ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg)

gnomAD frequency: 0.09351  dbSNP: rs35441642
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Total submissions: 11
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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 RCV000988331 SCV004102781 benign Severe combined immunodeficiency due to DCLRE1C deficiency 2023-11-14 reviewed by expert panel curation The NM_001033855.3:c.512C>G variant in DCLRE1C is a missense variant predicted to cause the substitution of proline by arginine at amino acid 171 (p.Pro171Arg). This variant has an allele frequency of 0.19422 in the East Asian population in gnomAD, which is above the threshold for BA1 set by the ClinGen SCID VCEP for DCLRE1C (>0.00346). In addition, this variant is present 1394 adult homozygous individuals in gnomADv2.1.1 (distributed in all gnomAD populations)(BS2_Supporting). In summary, this variant meets the criteria to be classified as Benign for autosomal recessive SCID based on the ACMG criteria applied: BA1 and BS2_Supporting, as specified by the ClinGen SCID VCEP (VCEP specifications version 1).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029657 SCV000052309 benign Severe combined immunodeficiency disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
PreventionGenetics, part of Exact Sciences RCV000244893 SCV000305989 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305875 SCV000361560 benign Histiocytic medullary reticulosis 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001650846 SCV000603291 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Mendelics RCV000988331 SCV001138003 benign Severe combined immunodeficiency due to DCLRE1C deficiency 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000988331 SCV001720361 benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000988331 SCV001750448 benign Severe combined immunodeficiency due to DCLRE1C deficiency 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001650846 SCV001863142 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25917813, 21664875, 23701501, 20674517)
Fulgent Genetics, Fulgent Genetics RCV002496450 SCV002813063 benign Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis 2022-03-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000305875 SCV001455087 benign Histiocytic medullary reticulosis 2020-09-16 no assertion criteria provided clinical testing

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