ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2620G>C (p.Gly874Arg)

dbSNP: rs113420526
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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 RCV000685000 SCV000812468 uncertain significance Fanconi anemia 2018-01-14 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SLX4-related disease. This variant is present in population databases (rs113420526, ExAC 0.01%). This sequence change replaces glycine with arginine at codon 874 of the SLX4 protein (p.Gly874Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine.

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