ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) (rs752594411)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171957 SCV000050949 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Fulgent Genetics,Fulgent Genetics RCV000765351 SCV000896616 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000171957 SCV000235964 uncertain significance not provided 2017-04-18 criteria provided, single submitter clinical testing The I621T variant of uncertain significance in the JUP gene has not been published as pathogenic or been reported as benign to our knowledge. The I621T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, to our knowledge no studies have been performed to determine the functional effect of the I621T variant. Furthermore, the I621T variant was observed in 8/8,426 alleles from individuals of East Asian ancestry, 5/5,786 alleles from individuals of European (Finnish) ancestry, and 6/64,012 alleles from individuals of European (Non-Finnish) ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016).

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