ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser)

gnomAD frequency: 0.00004  dbSNP: rs746223152
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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) RCV000733191 SCV000861222 uncertain significance not provided 2018-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000733191 SCV002208337 uncertain significance not provided 2024-08-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 526 of the TJP2 protein (p.Ala526Ser). This variant is present in population databases (rs746223152, gnomAD 0.02%). 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: 597158). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Fulgent Genetics, Fulgent Genetics RCV002477725 SCV002775932 uncertain significance Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4 2021-07-16 criteria provided, single submitter clinical testing
GeneDx RCV000733191 SCV005415188 uncertain significance not provided 2024-05-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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