ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1775G>A (p.Arg592Gln)

gnomAD frequency: 0.00001  dbSNP: rs1436726865
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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 RCV002047497 SCV002117338 likely benign Alagille syndrome due to a JAG1 point mutation 2022-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004996036 SCV005598282 uncertain significance Cardiovascular phenotype 2024-12-07 criteria provided, single submitter clinical testing The p.R592Q variant (also known as c.1775G>A), located in coding exon 14 of the JAG1 gene, results from a G to A substitution at nucleotide position 1775. The arginine at codon 592 is replaced by glutamine, an amino acid with highly similar 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 variant remains unclear.

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