ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1747A>C (p.Lys583Gln)

gnomAD frequency: 0.00001  dbSNP: rs1368413064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001048676 SCV001212690 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-12-02 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 845579). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 583 of the DCLRE1C protein (p.Lys583Gln).
Natera, Inc. RCV001832456 SCV002085979 uncertain significance Athabaskan severe combined immunodeficiency 2020-11-11 no assertion criteria provided clinical testing

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