ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2606G>C (p.Arg869Thr)

gnomAD frequency: 0.00001  dbSNP: rs779039237
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630872 SCV000751843 uncertain significance Fanconi anemia 2022-03-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 526351). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs779039237, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 869 of the SLX4 protein (p.Arg869Thr).
Ambry Genetics RCV004025393 SCV004953285 uncertain significance Inborn genetic diseases 2023-10-14 criteria provided, single submitter clinical testing The c.2606G>C (p.R869T) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a G to C substitution at nucleotide position 2606, causing the arginine (R) at amino acid position 869 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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