ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3347G>A (p.Arg1116Gln)

gnomAD frequency: 0.00001  dbSNP: rs908755268
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596683 SCV000708125 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001337732 SCV001531344 likely benign Alagille syndrome due to a JAG1 point mutation 2022-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325132 SCV002606705 uncertain significance Cardiovascular phenotype 2022-09-26 criteria provided, single submitter clinical testing The p.R1116Q variant (also known as c.3347G>A), located in coding exon 26 of the JAG1 gene, results from a G to A substitution at nucleotide position 3347. The arginine at codon 1116 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004553338 SCV004115464 uncertain significance JAG1-related disorder 2023-11-22 no assertion criteria provided clinical testing The JAG1 c.3347G>A variant is predicted to result in the amino acid substitution p.Arg1116Gln. This variant was reported as uncertain in one individual with asymmetric maculopathy who also carried a variant in ABCA4 gene (Patel et al, Indian J Ophthalmol Case Rep 2021;1:699-701). This variant is reported in 0.0046% of alleles in individuals of European (Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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