ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.721A>G (p.Lys241Glu)

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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 RCV005358754 SCV006023861 uncertain significance Cardiovascular phenotype 2025-03-02 criteria provided, single submitter clinical testing The p.K241E variant (also known as c.721A>G), located in coding exon 5 of the JAG1 gene, results from an A to G substitution at nucleotide position 721. The lysine at codon 241 is replaced by glutamic acid, 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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