ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5215G>A (p.Glu1739Lys)

dbSNP: rs2040453082
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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 RCV001313544 SCV001504043 uncertain significance Fanconi anemia 2020-07-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1739 of the SLX4 protein (p.Glu1739Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLX4-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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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