ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2132A>T (p.Tyr711Phe)

gnomAD frequency: 0.00001  dbSNP: rs768477511
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049093 SCV001213127 uncertain significance Fanconi anemia 2021-10-24 criteria provided, single submitter clinical testing 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"). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs768477511, ExAC 0.003%). This sequence change replaces tyrosine with phenylalanine at codon 711 of the SLX4 protein (p.Tyr711Phe). The tyrosine residue is highly conserved and there is a small physicochemical difference between tyrosine and phenylalanine.
Fulgent Genetics, Fulgent Genetics RCV002479300 SCV002781316 uncertain significance Fanconi anemia complementation group P 2022-05-12 criteria provided, single submitter clinical testing

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