ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2172_2173dup (p.Asp725fs)

dbSNP: rs1568794128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052880 SCV001217115 pathogenic Alagille syndrome due to a JAG1 point mutation 2019-02-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599). This variant has not been reported in the literature in individuals with JAG1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp725Glyfs*19) in the JAG1 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV005029621 SCV005656299 likely pathogenic 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 2024-01-17 criteria provided, single submitter clinical testing

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