ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1415G>A (p.Arg472His)

gnomAD frequency: 0.00001  dbSNP: rs574349599
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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) RCV000596400 SCV000704013 uncertain significance not provided 2017-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065158 SCV002468328 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553316 SCV004710114 uncertain significance JAG1-related disorder 2024-04-08 no assertion criteria provided clinical testing The JAG1 c.1415G>A variant is predicted to result in the amino acid substitution p.Arg472His. This variant was reported in two individuals from the same family both with features of familial exudative vitreoretinopathy (FEVR) (Family 2, Zhang et al. 2020. PubMed ID: 31273345). Functional studies showed that this variant altered the JAG1 protein (Zhang et al. 2020. PubMed ID: 31273345). This variant is reported in 0.049% of alleles in individuals of Latino 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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