ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1195G>A (p.Val399Met)

gnomAD frequency: 0.00005  dbSNP: rs181970528
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244469 SCV000303006 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001237017 SCV001409764 likely benign Alagille syndrome due to a JAG1 point mutation 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338795 SCV002643745 uncertain significance Cardiovascular phenotype 2022-05-27 criteria provided, single submitter clinical testing The p.V399M variant (also known as c.1195G>A), located in coding exon 9 of the JAG1 gene, results from a G to A substitution at nucleotide position 1195. The valine at codon 399 is replaced by methionine, 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.

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