ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4508C>T (p.Pro1503Leu)

gnomAD frequency: 0.00003  dbSNP: rs370637700
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001323169 SCV001514071 uncertain significance Fanconi anemia 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1503 of the SLX4 protein (p.Pro1503Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs370637700, ExAC 0.01%). 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 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. 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 RCV002499630 SCV002778999 uncertain significance Fanconi anemia complementation group P 2022-01-01 criteria provided, single submitter clinical testing

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