ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1795A>G (p.Lys599Glu)

gnomAD frequency: 0.00001  dbSNP: rs760292491
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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 RCV000644799 SCV000766514 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 599 of the DCLRE1C protein (p.Lys599Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs760292491, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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