ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3505C>T (p.Arg1169Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002637777 SCV003518227 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004070795 SCV005033031 uncertain significance Cardiovascular phenotype 2024-02-05 criteria provided, single submitter clinical testing The p.R1169W variant (also known as c.3505C>T), located in coding exon 26 of the JAG1 gene, results from a C to T substitution at nucleotide position 3505. The arginine at codon 1169 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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