ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu)

gnomAD frequency: 0.00007  dbSNP: rs767826365
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001309210 SCV001498702 benign Alagille syndrome due to a JAG1 point mutation 2023-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002437057 SCV002752245 uncertain significance Cardiovascular phenotype 2021-08-22 criteria provided, single submitter clinical testing The p.P943L variant (also known as c.2828C>T), located in coding exon 23 of the JAG1 gene, results from a C to T substitution at nucleotide position 2828. The proline at codon 943 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002476429 SCV002783043 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 2021-11-12 criteria provided, single submitter clinical testing

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