ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln)

gnomAD frequency: 0.00006  dbSNP: rs138007561
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729669 SCV000857347 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001226725 SCV001399048 likely benign Alagille syndrome due to a JAG1 point mutation 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485869 SCV002775194 uncertain significance Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 2022-02-03 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000729669 SCV000920749 uncertain significance not provided 2018-09-16 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004740434 SCV005346854 uncertain significance JAG1-related disorder 2024-03-22 no assertion criteria provided clinical testing The JAG1 c.3638G>A variant is predicted to result in the amino acid substitution p.Arg1213Gln. This variant has been reported in one patient with extrahepatic biliary atresia (EHBA) (Kohsaka et al. 2002. PubMed ID: 12297837) and in one patient with left ectopic kidney, polydactyly, hypospadias and butterfly vertebra (Table S3, Domingo-Gallego et al. 2022. PubMed ID: 33532864). Functional studies suggest this substitution may alter protein function via increasing binding affinity to the PDZ domain of afadin (Popovic et al. 2012. PubMed ID: 22465068; Popovic et al. 2011. PubMed ID: 20586101). This variant is reported in 0.0085% 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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