Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729669 | SCV000857347 | uncertain significance | not provided | 2017-10-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001226725 | SCV001399048 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2023-12-12 | criteria provided, single submitter | clinical testing | |
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, |
RCV000729669 | SCV000920749 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research | |
Prevention |
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. |