ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.793C>T (p.Arg265Cys)

gnomAD frequency: 0.00001  dbSNP: rs782761197
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001562895 SCV001785736 uncertain significance not provided 2020-03-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV003161099 SCV003857610 uncertain significance Cardiovascular phenotype 2022-12-29 criteria provided, single submitter clinical testing The p.R265C variant (also known as c.793C>T), located in coding exon 4 of the JUP gene, results from a C to T substitution at nucleotide position 793. The arginine at codon 265 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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