ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2665C>G (p.Arg889Gly)

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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 RCV002453135 SCV002739497 uncertain significance Cardiovascular phenotype 2021-09-07 criteria provided, single submitter clinical testing The p.R889G variant (also known as c.2665C>G), located in coding exon 22 of the JAG1 gene, results from a C to G substitution at nucleotide position 2665. The arginine at codon 889 is replaced by glycine, an amino acid with dissimilar 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 RCV003102086 SCV003462020 likely benign Alagille syndrome due to a JAG1 point mutation 2023-01-17 criteria provided, single submitter clinical testing

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