ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)

gnomAD frequency: 0.00125  dbSNP: rs140600202
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081719 SCV000547481 benign Fanconi anemia 2024-01-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502866 SCV000597139 uncertain significance not specified 2016-11-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000464063 SCV001150768 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing SLX4: BP4
Illumina Laboratory Services, Illumina RCV001121832 SCV001280485 uncertain significance Fanconi anemia complementation group P 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Baylor Genetics RCV001121832 SCV001482655 uncertain significance Fanconi anemia complementation group P 2020-11-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000464063 SCV002010279 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001081719 SCV002529300 likely benign Fanconi anemia 2021-02-13 criteria provided, single submitter curation
GeneDx RCV000464063 SCV002586578 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing Observed in individuals with breast or ovarian cancer, but also in unaffected controls (de Garibay 2013, Bakker 2013, Shah 2013, Song 2020); Published functional studies demonstrate cell growth similar to wild-type following exposure to Mitomycin C (Bakker 2013); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23211700, 22911665, 23840564, 28678401, 32546565, 34426522)
PreventionGenetics, part of Exact Sciences RCV003912802 SCV004730813 likely benign SLX4-related disorder 2020-01-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Leiden Open Variation Database RCV000502866 SCV001364629 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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