ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2274_2275del (p.Val760fs)

dbSNP: rs2514512962
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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 RCV002851766 SCV003220382 pathogenic Alagille syndrome due to a JAG1 point mutation 2022-07-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val760Glyfs*25) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Alagille syndrome (PMID: 31343788). This variant is also known as c.2279_2280del. For these reasons, this variant has been classified as Pathogenic.
3billion RCV002851766 SCV005905371 pathogenic Alagille syndrome due to a JAG1 point mutation 2023-08-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Frameshift: 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 (ClinVar ID: VCV002016817). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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