ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5063C>T (p.Pro1688Leu)

dbSNP: rs2151116555
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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 RCV001919396 SCV002191887 uncertain significance Fanconi anemia 2021-09-29 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 1688 of the SLX4 protein (p.Pro1688Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine.

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