ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1136T>C (p.Ile379Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004991833 SCV005602355 uncertain significance Cardiovascular phenotype 2024-09-22 criteria provided, single submitter clinical testing The p.I379T variant (also known as c.1136T>C), located in coding exon 2 of the JPH2 gene, results from a T to C substitution at nucleotide position 1136. The isoleucine at codon 379 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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