ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.317C>T (p.Pro106Leu)

dbSNP: rs2151139456
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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 RCV001915517 SCV002169273 uncertain significance Fanconi anemia 2021-06-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SLX4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 106 of the SLX4 protein (p.Pro106Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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