ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2198G>C (p.Gly733Ala)

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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 RCV002927451 SCV003260027 likely benign Alagille syndrome due to a JAG1 point mutation 2022-02-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004741345 SCV005344764 uncertain significance JAG1-related disorder 2024-08-01 no assertion criteria provided clinical testing The JAG1 c.2198G>C variant is predicted to result in the amino acid substitution p.Gly733Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0023% of alleles in individuals of European (non-Finnish) 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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