ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1713del (p.Cys572fs)

dbSNP: rs1555828546
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003153042 SCV003841763 pathogenic Alagille syndrome due to a JAG1 point mutation 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was 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. The variant has been reported to be associated with JAG1 related disorder (PMID: 16575836). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
PreventionGenetics, part of Exact Sciences RCV004741463 SCV005363292 pathogenic JAG1-related disorder 2024-08-15 no assertion criteria provided clinical testing The JAG1 c.1713delC variant is predicted to result in a frameshift and premature protein termination (p.Cys572Valfs*3). This variant has been reported as causative for Alagille syndrome (Warthen et al. 2006. PubMed ID: 16575836; Gilbert et al. 2019. PubMed ID: 31343788). This variant has not been reported in a large population database, indicating this variant is rare. Frameshift variants in JAG1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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