ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) (rs199761505)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000766064 SCV000897526 uncertain significance Hypercholanemia, familial; Progressive familial intrahepatic cholestasis 4 2018-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155291 SCV000204977 uncertain significance not specified 2014-05-01 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg397Cys varia nt in TJP2 has not been previously reported in individuals with hearing loss, bu t has been identified in 0.04% (3/8600) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs19976 1505). Arg397 is not conserved in mammals and across evolutionary distant specie s, supporting that a change at this position may be tolerated. Additional comput ational prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant cannot be determined with certainty; however based upon the conservation data, we would le an towards a more likely benign role.

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