ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3410A>G (p.Lys1137Arg)

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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 RCV002654669 SCV003521625 likely benign Alagille syndrome due to a JAG1 point mutation 2023-05-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550446 SCV004113053 uncertain significance JAG1-related disorder 2024-02-17 no assertion criteria provided clinical testing The JAG1 c.3410A>G variant is predicted to result in the amino acid substitution p.Lys1137Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0099% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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