ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5336G>A (p.Arg1779Gln)

gnomAD frequency: 0.00004  dbSNP: rs780261532
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630912 SCV000751885 uncertain significance Fanconi anemia 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1779 of the SLX4 protein (p.Arg1779Gln). This variant is present in population databases (rs780261532, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 526388). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002507059 SCV002815321 uncertain significance Fanconi anemia complementation group P 2021-10-29 criteria provided, single submitter clinical testing

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