ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3G>A (p.Met1Ile)

dbSNP: rs1555831014
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728541 SCV000856132 pathogenic not provided 2017-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001210761 SCV001382264 pathogenic Alagille syndrome due to a JAG1 point mutation 2022-02-09 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the JAG1 mRNA. The next in-frame methionine is located at codon 42. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the JAG1 protein in which other variant(s) (p.Leu37Ser) have been determined to be pathogenic (PMID: 11157803, 11180599). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 213528). This variant has not been reported in the literature in individuals affected with JAG1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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