ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=)

gnomAD frequency: 0.00021  dbSNP: rs144654282
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000316668 SCV000361549 uncertain significance Histiocytic medullary reticulosis 2018-01-12 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000552062 SCV000645219 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001172032 SCV001334961 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000316668 SCV001737222 likely benign Histiocytic medullary reticulosis 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000316668 SCV001455079 likely benign Histiocytic medullary reticulosis 2020-09-16 no assertion criteria provided clinical testing

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