ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr)

gnomAD frequency: 0.00022  dbSNP: rs139276234
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000358685 SCV000344311 uncertain significance not provided 2018-06-22 criteria provided, single submitter clinical testing
GeneDx RCV000358685 SCV002583968 uncertain significance not provided 2023-12-15 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
Fulgent Genetics, Fulgent Genetics RCV002494889 SCV002782409 uncertain significance Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4 2021-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519330 SCV003735452 uncertain significance Inborn genetic diseases 2021-12-08 criteria provided, single submitter clinical testing The c.2791G>A (p.A931T) alteration is located in exon 19 (coding exon 19) of the TJP2 gene. This alteration results from a G to A substitution at nucleotide position 2791, causing the alanine (A) at amino acid position 931 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000358685 SCV005410724 uncertain significance not provided 2024-01-05 criteria provided, single submitter clinical testing BP4

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