ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5000A>G (p.His1667Arg)

gnomAD frequency: 0.00003  dbSNP: rs139304111
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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 RCV001983863 SCV002278402 uncertain significance Fanconi anemia 2023-09-18 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1667 of the SLX4 protein (p.His1667Arg). This variant is present in population databases (rs139304111, gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1490694). This variant has not been reported in the literature in individuals affected with SLX4-related conditions.

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