ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4903A>G (p.Lys1635Glu)

gnomAD frequency: 0.00011  dbSNP: rs140417509
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002255820 SCV002529371 uncertain significance Fanconi anemia 2021-12-15 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002481063 SCV002784656 uncertain significance Fanconi anemia complementation group P 2022-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003101406 SCV003530054 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.4903A>G (p.K1635E) alteration is located in exon 14 (coding exon 13) of the SLX4 gene. This alteration results from a A to G substitution at nucleotide position 4903, causing the lysine (K) at amino acid position 1635 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV002255820 SCV004274341 uncertain significance Fanconi anemia 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 1635 of the SLX4 protein (p.Lys1635Glu). This variant is present in population databases (rs140417509, gnomAD 0.04%). 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: 1692018). 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. 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.
PreventionGenetics, part of Exact Sciences RCV003896091 SCV004717650 uncertain significance SLX4-related disorder 2024-02-13 criteria provided, single submitter clinical testing The SLX4 c.4903A>G variant is predicted to result in the amino acid substitution p.Lys1635Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.048% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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