ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.629T>C (p.Leu210Pro)

dbSNP: rs957576825
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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 RCV000793134 SCV000932474 uncertain significance Fanconi anemia 2018-11-01 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 210 of the SLX4 protein (p.Leu210Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline. This variant has not been reported in the literature in individuals with SLX4-related disease. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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