ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3456C>G (p.His1152Gln)

gnomAD frequency: 0.00001  dbSNP: rs1392887430
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004552530 SCV004120698 uncertain significance JAG1-related disorder 2023-07-20 criteria provided, single submitter clinical testing The JAG1 c.3456C>G variant is predicted to result in the amino acid substitution p.His1152Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-10620347-G-C). 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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