ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1354A>T (p.Thr452Ser) (rs794729045)

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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 RCV000765352 SCV000896617 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000183499 SCV000235959 uncertain significance not provided 2015-05-06 criteria provided, single submitter clinical testing p.Thr452Ser (ACG>TCG): c.1354 A>T in exon 8 of the JUP gene (NM_002230.2). The T452S variant has not been published as a mutation or as a benign polymorphism to our knowledge. The T452S variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is completely conserved in mammals. However, the T452S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The variant is found in ARRHYTHMIA panel(s).

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