ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1018A>G (p.Lys340Glu)

gnomAD frequency: 0.00046  dbSNP: rs763206171
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
Eurofins Ntd Llc (ga) RCV000728779 SCV000856393 uncertain significance not provided 2017-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000728779 SCV001782431 uncertain significance not provided 2023-06-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000728779 SCV003291532 uncertain significance not provided 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 340 of the TJP2 protein (p.Lys340Glu). This variant is present in population databases (rs763206171, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TJP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 593669). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002535092 SCV003698570 uncertain significance Inborn genetic diseases 2022-03-29 criteria provided, single submitter clinical testing The c.1018A>G (p.K340E) alteration is located in exon 6 (coding exon 6) of the TJP2 gene. This alteration results from a A to G substitution at nucleotide position 1018, causing the lysine (K) at amino acid position 340 to be replaced by a glutamic acid (E). 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.