ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.316A>G (p.Thr106Ala)

gnomAD frequency: 0.00006  dbSNP: rs909905245
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001992501 SCV002222536 benign Alagille syndrome due to a JAG1 point mutation 2023-06-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002324391 SCV002610007 uncertain significance Cardiovascular phenotype 2024-05-22 criteria provided, single submitter clinical testing The p.T106A variant (also known as c.316A>G), located in coding exon 2 of the JAG1 gene, results from an A to G substitution at nucleotide position 316. The threonine at codon 106 is replaced by alanine, 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 RCV002479548 SCV002797116 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 2022-04-19 criteria provided, single submitter clinical testing

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