ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2779G>A (p.Val927Ile)

gnomAD frequency: 0.00001  dbSNP: rs770415804
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734627 SCV000862783 uncertain significance not provided 2018-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440583 SCV002748220 uncertain significance Cardiovascular phenotype 2022-04-19 criteria provided, single submitter clinical testing The p.V927I variant (also known as c.2779G>A), located in coding exon 23 of the JAG1 gene, results from a G to A substitution at nucleotide position 2779. The valine at codon 927 is replaced by isoleucine, an amino acid with highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002536524 SCV003256906 benign Alagille syndrome due to a JAG1 point mutation 2023-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005029400 SCV005656283 uncertain significance Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 2024-03-28 criteria provided, single submitter clinical testing

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