ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln)

gnomAD frequency: 0.00015  dbSNP: rs139629694
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527222 SCV000645529 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001560044 SCV001782378 uncertain significance not provided 2020-07-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Splice predictors suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32459320)
PreventionGenetics, part of Exact Sciences RCV004553236 SCV004739535 uncertain significance JAG1-related disorder 2024-01-03 no assertion criteria provided clinical testing The JAG1 c.3281G>A variant is predicted to result in the amino acid substitution p.Arg1094Gln. This variant was reported in an individual with hypothyroidism (Yamaguchi et al 2020. PubMed ID: 32459320). This variant is reported in 0.023% of alleles in individuals of European (Non-Finnish) descent in gnomAD, which is likely too common to be a primary cause of disease. Although we suspect this variant may be benign, at this time, the clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.

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