ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg)

gnomAD frequency: 0.00006  dbSNP: rs546628836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536482 SCV000626414 uncertain significance Fanconi anemia 2022-08-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 981 of the SLX4 protein (p.Gly981Arg). This variant is present in population databases (rs546628836, gnomAD 0.06%). 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: 456304). 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. 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.
Mendelics RCV000989498 SCV001139911 uncertain significance Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV001293952 SCV001482656 uncertain significance Fanconi anemia complementation group P 2020-12-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001293952 SCV002812126 uncertain significance Fanconi anemia complementation group P 2021-07-08 criteria provided, single submitter clinical testing

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