ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5189C>G (p.Ser1730Cys)

gnomAD frequency: 0.00001  dbSNP: rs376960842
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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 RCV002024340 SCV002307924 uncertain significance Fanconi anemia 2021-08-04 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 1730 of the SLX4 protein (p.Ser1730Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with SLX4-related conditions.

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