ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.3503A>G (p.Gln1168Arg)

gnomAD frequency: 0.00001  dbSNP: rs759725360
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728574 SCV000856166 uncertain significance not provided 2017-08-04 criteria provided, single submitter clinical testing
Invitae RCV000728574 SCV002199481 uncertain significance not provided 2023-03-08 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 593513). This variant has not been reported in the literature in individuals affected with TJP2-related conditions. This variant is present in population databases (rs759725360, gnomAD 0.05%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1168 of the TJP2 protein (p.Gln1168Arg).
GeneDx RCV000728574 SCV004168761 uncertain significance not provided 2023-05-02 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

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