ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.179T>G (p.Phe60Cys)

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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 RCV004635799 SCV005127415 uncertain significance Cardiovascular phenotype 2024-06-07 criteria provided, single submitter clinical testing The p.F60C variant (also known as c.179T>G), located in coding exon 1 of the JPH2 gene, results from a T to G substitution at nucleotide position 179. The phenylalanine at codon 60 is replaced by cysteine, an amino acid with highly dissimilar 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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