ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1604A>G (p.Gln535Arg)

dbSNP: rs887381468
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002003837 SCV002274301 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2021-10-13 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. This sequence change replaces glutamine with arginine at codon 535 of the DCLRE1C protein (p.Gln535Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine.

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