ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.822G>C (p.Gln274His)

dbSNP: rs1367038373
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820321 SCV002069557 uncertain significance not specified 2019-08-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002542605 SCV003672913 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.822G>C (p.Q274H) alteration is located in exon 4 (coding exon 3) of the SLX4 gene. This alteration results from a G to C substitution at nucleotide position 822, causing the glutamine (Q) at amino acid position 274 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003635977 SCV004533925 uncertain significance Fanconi anemia 2022-12-21 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine 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: 1337307). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 274 of the SLX4 protein (p.Gln274His).

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