ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr)

gnomAD frequency: 0.00004  dbSNP: rs372904306
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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 RCV001369546 SCV001565988 likely benign Alagille syndrome due to a JAG1 point mutation 2022-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493884 SCV002778898 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 2021-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169894 SCV003863894 uncertain significance Cardiovascular phenotype 2022-11-04 criteria provided, single submitter clinical testing The p.P901T variant (also known as c.2701C>A), located in coding exon 23 of the JAG1 gene, results from a C to A substitution at nucleotide position 2701. The proline at codon 901 is replaced by threonine, 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.

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