ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2726C>T (p.Ala909Val)

gnomAD frequency: 0.00028  dbSNP: rs146761713
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594655 SCV000707786 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing
GeneDx RCV000594655 SCV001825228 uncertain significance not provided 2024-02-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000594655 SCV002193843 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 909 of the TJP2 protein (p.Ala909Val). This variant is present in population databases (rs146761713, gnomAD 0.09%). 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: 501435). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TJP2 protein function. 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.
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004584766 SCV005073807 likely pathogenic Autosomal dominant nonsyndromic hearing loss 51 2024-06-10 criteria provided, single submitter research A very rare variant predicted deleterious by most prediction programs. The type of HL is characteristic for this gene

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