Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728779 | SCV000856393 | uncertain significance | not provided | 2017-08-15 | criteria provided, single submitter | clinical testing | |
Gene |
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. |