ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu)

gnomAD frequency: 0.00017  dbSNP: rs201366118
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589719 SCV001814304 uncertain significance not provided 2022-11-23 criteria provided, single submitter clinical testing Reported in multiple family members with hearing loss in a single family in published literature; however, the variant did not segregate with all affected family members (Wang et al., 2015).; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31450555, 24752540, 26668150, 32942997)
Fulgent Genetics, Fulgent Genetics RCV002476891 SCV002783343 uncertain significance Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4 2022-02-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001589719 SCV003440792 likely benign not provided 2024-07-17 criteria provided, single submitter clinical testing

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