ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.528A>T (p.Lys176Asn)

gnomAD frequency: 0.00005  dbSNP: rs778569160
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001988853 SCV002282769 uncertain significance Fanconi anemia 2023-09-17 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. This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 176 of the SLX4 protein (p.Lys176Asn). This variant is present in population databases (rs778569160, gnomAD 0.009%). 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: 1491723). 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 tolerated.
Fulgent Genetics, Fulgent Genetics RCV002479699 SCV002801331 uncertain significance Fanconi anemia complementation group P 2022-03-05 criteria provided, single submitter clinical testing

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