ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4334G>A (p.Arg1445Gln)

gnomAD frequency: 0.00001  dbSNP: rs756660911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001969474 SCV002261758 uncertain significance Fanconi anemia 2022-04-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs756660911, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1445 of the SLX4 protein (p.Arg1445Gln). 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.
Fulgent Genetics, Fulgent Genetics RCV002497927 SCV002806227 uncertain significance Fanconi anemia complementation group P 2021-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004671580 SCV005167132 uncertain significance Inborn genetic diseases 2024-06-19 criteria provided, single submitter clinical testing The c.4334G>A (p.R1445Q) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a G to A substitution at nucleotide position 4334, causing the arginine (R) at amino acid position 1445 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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