ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2087G>A (p.Gly696Glu)

gnomAD frequency: 0.00002  dbSNP: rs780243244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001068197 SCV001233293 likely benign Alagille syndrome due to a JAG1 point mutation 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418552 SCV002727130 uncertain significance Cardiovascular phenotype 2022-08-30 criteria provided, single submitter clinical testing The p.G696E variant (also known as c.2087G>A), located in coding exon 16 of the JAG1 gene, results from a G to A substitution at nucleotide position 2087. The glycine at codon 696 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 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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