ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr)

gnomAD frequency: 0.00015  dbSNP: rs574205422
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001487548 SCV001692038 likely benign Alagille syndrome due to a JAG1 point mutation 2023-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002432367 SCV002741073 uncertain significance Cardiovascular phenotype 2021-08-26 criteria provided, single submitter clinical testing The p.A833T variant (also known as c.2497G>A), located in coding exon 21 of the JAG1 gene, results from a G to A substitution at nucleotide position 2497. The alanine at codon 833 is replaced by threonine, 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.
Fulgent Genetics, Fulgent Genetics RCV002495730 SCV002808341 likely benign 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 2022-05-20 criteria provided, single submitter clinical testing

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