ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp)

dbSNP: rs372264472
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001302303 SCV001491504 uncertain significance Fanconi anemia 2023-12-11 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 558 of the SLX4 protein (p.Arg558Trp). This variant is present in population databases (rs372264472, gnomAD 0.02%). 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: 1005436). 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 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238341 SCV002010379 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV001760355 SCV002030175 uncertain significance Fanconi anemia complementation group P 2021-10-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genetic Services Laboratory, University of Chicago RCV001819992 SCV002068962 uncertain significance not specified 2018-04-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001302303 SCV002529272 uncertain significance Fanconi anemia 2022-02-08 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV001760355 SCV002791627 uncertain significance Fanconi anemia complementation group P 2022-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544627 SCV003537250 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.1672C>T (p.R558W) alteration is located in exon 7 (coding exon 6) of the SLX4 gene. This alteration results from a C to T substitution at nucleotide position 1672, causing the arginine (R) at amino acid position 558 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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