ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys) (rs142040192)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764056 SCV000895010 uncertain significance Fanconi anemia, complementation group P 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313817 SCV000396835 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000313817 SCV000547475 uncertain significance Fanconi anemia 2018-09-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 1314 of the SLX4 protein (p.Gln1314Lys). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and lysine. This variant is present in population databases (rs142040192, ExAC 0.04%) but has not been reported in the literature in individuals with an SLX4-related disease. ClinVar contains an entry for this variant (Variation ID: 319154). 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, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function or cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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