ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3569C>T (p.Pro1190Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004224621 SCV003731452 uncertain significance Cardiovascular phenotype 2024-01-29 criteria provided, single submitter clinical testing The p.P1190L variant (also known as c.3569C>T), located in coding exon 26 of the JAG1 gene, results from a C to T substitution at nucleotide position 3569. The proline at codon 1190 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003509774 SCV004308471 likely benign Alagille syndrome due to a JAG1 point mutation 2023-02-27 criteria provided, single submitter clinical testing

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