ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys)

dbSNP: rs781509375
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047259 SCV001211200 likely benign Alagille syndrome due to a JAG1 point mutation 2022-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497386 SCV002813494 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 2021-11-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553584 SCV004119807 uncertain significance JAG1-related disorder 2024-03-01 no assertion criteria provided clinical testing The JAG1 c.3007G>A variant is predicted to result in the amino acid substitution p.Glu1003Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of South Asian 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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