ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3101G>A (p.Arg1034His)

gnomAD frequency: 0.00006  dbSNP: rs150453226
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465404 SCV000547450 uncertain significance Fanconi anemia 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1034 of the SLX4 protein (p.Arg1034His). This variant is present in population databases (rs150453226, gnomAD 0.02%). This missense change has been observed in individual(s) with familial breast cancer (PMID: 21805310). ClinVar contains an entry for this variant (Variation ID: 407910). 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.
Fulgent Genetics, Fulgent Genetics RCV000764057 SCV000895011 uncertain significance Fanconi anemia complementation group P 2021-09-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000764057 SCV003823910 uncertain significance Fanconi anemia complementation group P 2019-05-21 criteria provided, single submitter clinical testing

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