ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser)

gnomAD frequency: 0.00004  dbSNP: rs760332763
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533650 SCV000645527 benign Alagille syndrome due to a JAG1 point mutation 2023-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491063 SCV002781640 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 2021-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024061 SCV003951735 uncertain significance Cardiovascular phenotype 2023-03-31 criteria provided, single submitter clinical testing The c.2827C>T (p.P943S) alteration is located in exon 23 (coding exon 23) of the JAG1 gene. This alteration results from a C to T substitution at nucleotide position 2827, causing the proline (P) at amino acid position 943 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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