ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4406C>T (p.Ser1469Phe)

gnomAD frequency: 0.00003  dbSNP: rs759045352
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049258 SCV001213302 uncertain significance Fanconi anemia 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 1469 of the SLX4 protein (p.Ser1469Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs759045352, ExAC 0.03%). This variant has not been reported in the literature in individuals affected 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.
Sema4, Sema4 RCV001049258 SCV002529352 uncertain significance Fanconi anemia 2021-11-15 criteria provided, single submitter curation
Ambry Genetics RCV002552655 SCV003582655 uncertain significance Inborn genetic diseases 2021-10-06 criteria provided, single submitter clinical testing The c.4406C>T (p.S1469F) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a C to T substitution at nucleotide position 4406, causing the serine (S) at amino acid position 1469 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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