ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2117A>T (p.His706Leu)

dbSNP: rs2151128459
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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 RCV001929285 SCV002204834 uncertain significance Fanconi anemia 2021-02-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with leucine at codon 706 of the SLX4 protein (p.His706Leu). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and leucine. This variant has not been reported in the literature in individuals 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: "Probably 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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