ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3001G>A (p.Ala1001Thr)

gnomAD frequency: 0.00002  dbSNP: rs200593413
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732496 SCV000860461 uncertain significance not provided 2018-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067131 SCV002478264 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547935 SCV004118548 uncertain significance JAG1-related disorder 2022-12-18 criteria provided, single submitter clinical testing The JAG1 c.3001G>A variant is predicted to result in the amino acid substitution p.Ala1001Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0098% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-10621808-C-T). Although we suspect that this variant may be benign, 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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