ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1274A>G (p.Lys425Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002450050 SCV002682217 uncertain significance Cardiovascular phenotype 2021-07-30 criteria provided, single submitter clinical testing The p.K425R variant (also known as c.1274A>G), located in coding exon 10 of the JAG1 gene, results from an A to G substitution at nucleotide position 1274. The lysine at codon 425 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003100118 SCV003485574 likely benign Alagille syndrome due to a JAG1 point mutation 2022-03-27 criteria provided, single submitter clinical testing

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