ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4019A>G (p.His1340Arg)

gnomAD frequency: 0.00001  dbSNP: rs776760390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069377 SCV001234541 uncertain significance Fanconi anemia 2022-05-03 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 1340 of the SLX4 protein (p.His1340Arg). This variant is present in population databases (rs776760390, 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: 862622). 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.
Fulgent Genetics, Fulgent Genetics RCV002489708 SCV002780098 uncertain significance Fanconi anemia complementation group P 2021-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003363099 SCV004064025 uncertain significance Inborn genetic diseases 2023-08-04 criteria provided, single submitter clinical testing The c.4019A>G (p.H1340R) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a A to G substitution at nucleotide position 4019, causing the histidine (H) at amino acid position 1340 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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