ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp)

gnomAD frequency: 0.00011  dbSNP: rs377723772
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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) RCV000598181 SCV000706737 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing
Invitae RCV000810621 SCV000950841 benign Alagille syndrome due to a JAG1 point mutation 2023-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325129 SCV002606696 uncertain significance Cardiovascular phenotype 2022-03-19 criteria provided, single submitter clinical testing The p.R1116W variant (also known as c.3346C>T), located in coding exon 26 of the JAG1 gene, results from a C to T substitution at nucleotide position 3346. The arginine at codon 1116 is replaced by tryptophan, an amino acid with dissimilar 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 RCV003927929 SCV004743279 uncertain significance JAG1-related condition 2024-01-31 criteria provided, single submitter clinical testing The JAG1 c.3346C>T variant is predicted to result in the amino acid substitution p.Arg1116Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.032% of alleles in individuals of African 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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