ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2023G>A (p.Gly675Arg)

gnomAD frequency: 0.00004  dbSNP: rs767473953
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630924 SCV000751898 uncertain significance Fanconi anemia 2023-07-03 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine 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: 526399). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs767473953, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 675 of the SLX4 protein (p.Gly675Arg).
CeGaT Center for Human Genetics Tuebingen RCV000996187 SCV001150770 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483774 SCV002788180 uncertain significance Fanconi anemia complementation group P 2022-04-20 criteria provided, single submitter clinical testing

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