ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1898A>G (p.Glu633Gly)

dbSNP: rs533771936
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797682 SCV000937255 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 633 of the DCLRE1C protein (p.Glu633Gly). This variant is present in population databases (rs533771936, gnomAD 0.05%). 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: 643878). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV001563938 SCV001786999 uncertain significance Histiocytic medullary reticulosis 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000797682 SCV001787000 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275796 SCV001461356 uncertain significance Athabaskan severe combined immunodeficiency 2020-03-10 no assertion criteria provided clinical testing

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