Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000357300 | SCV000432906 | uncertain significance | Isolated Nonsyndromic Congenital Heart Disease | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Ambry Genetics | RCV000618450 | SCV000736156 | uncertain significance | Cardiovascular phenotype | 2017-12-12 | criteria provided, single submitter | clinical testing | The p.T767M variant (also known as c.2300C>T), located in coding exon 18 of the JAG1 gene, results from a C to T substitution at nucleotide position 2300. The threonine at codon 767 is replaced by methionine, an amino acid with similar properties. This alteration was detected in one family in a study of suspected Alagille syndrome cases; however, the diagnosis of Alagille syndrome was unlikely after further clinical assessment, and clinical details were limited (Guegan K et al. Clin. Genet., 2012 Jul;82:33-40). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV000645019 | SCV000766758 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2023-12-30 | criteria provided, single submitter | clinical testing | |
| Eurofins Ntd Llc |
RCV000730538 | SCV000858283 | uncertain significance | not provided | 2017-11-20 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002487494 | SCV002787767 | 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 | 2021-12-15 | criteria provided, single submitter | clinical testing |