ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3926C>T (p.Ser1309Phe)

gnomAD frequency: 0.00001  dbSNP: rs556682517
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555668 SCV000626427 uncertain significance Fanconi anemia 2022-10-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1309 of the SLX4 protein (p.Ser1309Phe). This variant is present in population databases (rs556682517, gnomAD 0.06%). This missense change has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 30995915). ClinVar contains an entry for this variant (Variation ID: 456316). 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.
Fulgent Genetics, Fulgent Genetics RCV002490950 SCV002788853 uncertain significance Fanconi anemia complementation group P 2022-04-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV002490950 SCV004202562 uncertain significance Fanconi anemia complementation group P 2023-07-19 criteria provided, single submitter clinical testing

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