ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4443C>G (p.Ser1481Arg)

dbSNP: rs1307537720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001916838 SCV002190308 uncertain significance Fanconi anemia 2021-07-06 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 1481 of the SLX4 protein (p.Ser1481Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002507579 SCV002815033 uncertain significance Fanconi anemia complementation group P 2021-08-09 criteria provided, single submitter clinical testing

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