ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4144A>G (p.Ser1382Gly)

gnomAD frequency: 0.00002  dbSNP: rs767790750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060792 SCV001225503 uncertain significance Fanconi anemia 2023-02-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 1382 of the SLX4 protein (p.Ser1382Gly). This variant is present in population databases (rs767790750, gnomAD 0.008%). 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: 855511). 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 glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002489665 SCV002781742 uncertain significance Fanconi anemia complementation group P 2022-05-04 criteria provided, single submitter clinical testing

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