ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4258C>G (p.Pro1420Ala)

dbSNP: rs2151121708
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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 RCV001364946 SCV001561153 uncertain significance Fanconi anemia 2020-05-31 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with alanine at codon 1420 of the SLX4 protein (p.Pro1420Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant has not been reported in the literature in individuals with SLX4-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").

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