ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4999C>A (p.His1667Asn)

dbSNP: rs746120772
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204719 SCV001375938 uncertain significance Fanconi anemia 2023-01-31 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 936009). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs746120772, gnomAD 0.02%). This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1667 of the SLX4 protein (p.His1667Asn).

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