ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg)

gnomAD frequency: 0.00002  dbSNP: rs750855317
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209633 SCV001381078 likely benign Alagille syndrome due to a JAG1 point mutation 2023-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411771 SCV002716972 uncertain significance Cardiovascular phenotype 2022-02-20 criteria provided, single submitter clinical testing The p.K612R variant (also known as c.1835A>G), located in coding exon 14 of the JAG1 gene, results from an A to G substitution at nucleotide position 1835. The lysine at codon 612 is replaced by arginine, 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.
Fulgent Genetics, Fulgent Genetics RCV002484135 SCV002787296 uncertain significance Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 2021-07-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548060 SCV004717089 uncertain significance JAG1-related disorder 2023-11-22 criteria provided, single submitter clinical testing The JAG1 c.1835A>G variant is predicted to result in the amino acid substitution p.Lys612Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-10627637-T-C). 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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