ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2287G>A (p.Gly763Ser)

gnomAD frequency: 0.00005  dbSNP: rs746939887
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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 RCV001226966 SCV001399299 likely benign Alagille syndrome due to a JAG1 point mutation 2023-08-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002447141 SCV002734740 uncertain significance Cardiovascular phenotype 2022-10-17 criteria provided, single submitter clinical testing The p.G763S variant (also known as c.2287G>A), located in coding exon 18 of the JAG1 gene, results from a G to A substitution at nucleotide position 2287. The glycine at codon 763 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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