ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile)

gnomAD frequency: 0.00007  dbSNP: rs150295026
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596800 SCV000706522 uncertain significance not provided 2017-02-24 criteria provided, single submitter clinical testing
Invitae RCV001854061 SCV002179840 benign Alagille syndrome due to a JAG1 point mutation 2023-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456305 SCV002613920 uncertain significance Cardiovascular phenotype 2018-12-31 criteria provided, single submitter clinical testing The p.V1218I variant (also known as c.3652G>A), located in coding exon 26 of the JAG1 gene, results from a G to A substitution at nucleotide position 3652. The valine at codon 1218 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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 RCV002491208 SCV002783688 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 2022-02-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003409868 SCV004109200 uncertain significance JAG1-related condition 2023-07-01 criteria provided, single submitter clinical testing The JAG1 c.3652G>A variant is predicted to result in the amino acid substitution p.Val1218Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.018% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-10620151-C-T). 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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