ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2650C>T (p.Gln884Ter)

dbSNP: rs2122597239
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001807916 SCV002058194 pathogenic Alagille syndrome due to a JAG1 point mutation 2022-01-03 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). The variant has been reported to be associated with JAG1 related disorder (PMID:17241866).Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Labcorp Genetics (formerly Invitae), Labcorp RCV001807916 SCV002238964 pathogenic Alagille syndrome due to a JAG1 point mutation 2021-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln884*) in the JAG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Alagille syndrome (PMID: 17241866). This variant is not present in population databases (gnomAD no frequency).

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