ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met)

gnomAD frequency: 0.00004  dbSNP: rs373260040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001372709 SCV001569391 likely benign Alagille syndrome due to a JAG1 point mutation 2022-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493898 SCV002778004 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 2021-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550092 SCV004711027 uncertain significance JAG1-related disorder 2023-11-22 criteria provided, single submitter clinical testing The JAG1 c.3398C>T variant is predicted to result in the amino acid substitution p.Thr1133Met. This variant was reported in a study of patients with congenital hypothyroidism (Supplementary Table 4, Yamaguchi et al. 2020. PubMed ID: 32459320). This variant is reported in 0.035% of alleles in individuals of East Asian descent in gnomAD, which is more common than expected for a pathogenic variant for an autosomal dominant disorder. Although we suspect this variant may be benign, at this time its clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.

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