ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4804A>C (p.Thr1602Pro)

dbSNP: rs756198942
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001934002 SCV002209327 uncertain significance Fanconi anemia 2022-10-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1602 of the SLX4 protein (p.Thr1602Pro). This variant is present in population databases (rs756198942, gnomAD 0.0009%). 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: 1437419). 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 disruptive. 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.
Ambry Genetics RCV002562770 SCV003617451 uncertain significance Inborn genetic diseases 2022-04-28 criteria provided, single submitter clinical testing The c.4804A>C (p.T1602P) alteration is located in exon 14 (coding exon 13) of the SLX4 gene. This alteration results from a A to C substitution at nucleotide position 4804, causing the threonine (T) at amino acid position 1602 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003401929 SCV004104249 uncertain significance SLX4-related disorder 2023-02-28 criteria provided, single submitter clinical testing The SLX4 c.4804A>C variant is predicted to result in the amino acid substitution p.Thr1602Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-3633447-T-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.