ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn)

dbSNP: rs370107709
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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 RCV001317558 SCV001508227 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395679 SCV002701234 uncertain significance Cardiovascular phenotype 2021-11-22 criteria provided, single submitter clinical testing The p.D489N variant (also known as c.1465G>A), located in coding exon 12 of the JAG1 gene, results from a G to A substitution at nucleotide position 1465. The aspartic acid at codon 489 is replaced by asparagine, 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.
Fulgent Genetics, Fulgent Genetics RCV002476481 SCV002775294 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 2022-01-19 criteria provided, single submitter clinical testing

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