ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2305G>A (p.Val769Ile)

gnomAD frequency: 0.00001  dbSNP: rs754301929
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591788 SCV000709618 uncertain significance not provided 2017-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448839 SCV002735545 uncertain significance Cardiovascular phenotype 2021-09-21 criteria provided, single submitter clinical testing The p.V769I variant (also known as c.2305G>A), located in coding exon 18 of the JAG1 gene, results from a G to A substitution at nucleotide position 2305. The valine at codon 769 is replaced by isoleucine, 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 RCV002532683 SCV003269206 likely benign Alagille syndrome due to a JAG1 point mutation 2022-07-19 criteria provided, single submitter clinical testing

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