ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1988A>C (p.Lys663Thr)

dbSNP: rs2131768961
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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 RCV001370785 SCV001567319 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 663 of the DCLRE1C protein (p.Lys663Thr). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and threonine. This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine 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.

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