ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1433G>C (p.Arg478Thr)

dbSNP: rs760992953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731289 SCV000859089 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536461 SCV003642720 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.1433G>C (p.R478T) alteration is located in exon 9 (coding exon 9) of the TJP2 gene. This alteration results from a G to C substitution at nucleotide position 1433, causing the arginine (R) at amino acid position 478 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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