ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1255G>A (p.Glu419Lys)

gnomAD frequency: 0.00002  dbSNP: rs941244697
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
GeneDx RCV001544782 SCV001763980 uncertain significance not provided 2019-08-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002032549 SCV002169210 uncertain significance Fanconi anemia 2022-03-19 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1185875). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 419 of the SLX4 protein (p.Glu419Lys).
Ambry Genetics RCV002568956 SCV003706555 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.1255G>A (p.E419K) alteration is located in exon 6 (coding exon 5) of the SLX4 gene. This alteration results from a G to A substitution at nucleotide position 1255, causing the glutamic acid (E) at amino acid position 419 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.