ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4333C>T (p.Arg1445Trp)

gnomAD frequency: 0.00010  dbSNP: rs777967898
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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 RCV000458396 SCV000547443 uncertain significance Fanconi anemia 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1445 of the SLX4 protein (p.Arg1445Trp). This variant is present in population databases (rs777967898, gnomAD 0.03%). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 23211700). ClinVar contains an entry for this variant (Variation ID: 407904). 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 tryptophan 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 RCV000764053 SCV000895007 uncertain significance Fanconi anemia complementation group P 2024-03-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004696220 SCV005194161 uncertain significance not provided criteria provided, single submitter not provided

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