ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val)

gnomAD frequency: 0.00014  dbSNP: rs115250914
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528070 SCV000645220 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 462 of the DCLRE1C protein (p.Glu462Val). This variant is present in population databases (rs115250914, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 468482). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV001563935 SCV001786995 uncertain significance Histiocytic medullary reticulosis 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000528070 SCV001786996 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2021-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476172 SCV002789330 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis 2021-11-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691886 SCV005190649 uncertain significance not provided criteria provided, single submitter not provided

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