ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2307C>T (p.Val769=)

gnomAD frequency: 0.00003  dbSNP: rs1009422076
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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 RCV001910914 SCV002167082 likely benign Alagille syndrome due to a JAG1 point mutation 2023-05-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004741129 SCV005361534 uncertain significance JAG1-related disorder 2024-09-10 no assertion criteria provided clinical testing The JAG1 c.2307C>T variant is not predicted to result in an amino acid change (p.=). This variant is predicted to alter splicing based on available splicing prediction software (SpliceAI, Jaganathan et al. 2019. PubMed ID: 30661751). However, the use of computer prediction softwares is not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% 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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