ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1077G>T (p.Lys359Asn)

gnomAD frequency: 0.00003  dbSNP: rs149470704
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548798 SCV000626395 uncertain significance Fanconi anemia 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 359 of the SLX4 protein (p.Lys359Asn). This variant is present in population databases (rs149470704, gnomAD 0.02%). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 23840564, 32546565). ClinVar contains an entry for this variant (Variation ID: 456289). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Sema4, Sema4 RCV000548798 SCV002529247 uncertain significance Fanconi anemia 2022-02-15 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002476097 SCV002794251 uncertain significance Fanconi anemia complementation group P 2022-02-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV002476097 SCV004202563 uncertain significance Fanconi anemia complementation group P 2023-06-29 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.