ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1169G>T (p.Ser390Ile)

gnomAD frequency: 0.00003  dbSNP: rs775559576
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630827 SCV000751794 uncertain significance Fanconi anemia 2021-09-10 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 390 of the SLX4 protein (p.Ser390Ile). The serine residue is moderately conserved and there is a large physicochemical difference between serine and isoleucine. This variant is present in population databases (rs775559576, ExAC 0.009%). 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.
Fulgent Genetics, Fulgent Genetics RCV002492946 SCV002785699 uncertain significance Fanconi anemia complementation group P 2021-12-21 criteria provided, single submitter clinical testing

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