ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln)

gnomAD frequency: 0.00001  dbSNP: rs1268561604
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002484072 SCV002784319 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 2022-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003284036 SCV004005042 uncertain significance Cardiovascular phenotype 2023-06-10 criteria provided, single submitter clinical testing The p.R1169Q variant (also known as c.3506G>A), located in coding exon 26 of the JAG1 gene, results from a G to A substitution at nucleotide position 3506. The arginine at codon 1169 is replaced by glutamine, 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.
Invitae RCV003770226 SCV004614932 likely benign Alagille syndrome due to a JAG1 point mutation 2023-11-12 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Motol Hospital RCV001200019 SCV001164097 uncertain significance Scoliosis; Pes planus; Aortic dilatation 2020-02-28 no assertion criteria provided clinical testing

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