ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.343A>C (p.Ser115Arg)

dbSNP: rs959148678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002011467 SCV002301102 uncertain significance Fanconi anemia 2023-06-27 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1510044). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 115 of the SLX4 protein (p.Ser115Arg).
Fulgent Genetics, Fulgent Genetics RCV002486684 SCV002788252 uncertain significance Fanconi anemia complementation group P 2022-05-20 criteria provided, single submitter clinical testing

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