Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000310081 | SCV000432882 | benign | 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
| Eurofins Ntd Llc |
RCV000592285 | SCV000709481 | uncertain significance | not provided | 2017-06-29 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001506176 | SCV001711092 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2023-11-19 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000592285 | SCV003805375 | uncertain significance | not provided | 2023-02-02 | criteria provided, single submitter | clinical testing | Reported in a patient with congenital hypothyroidism in published literature (Yamaguchi et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32459320) |
| Prevention |
RCV004739693 | SCV005362751 | uncertain significance | JAG1-related disorder | 2024-04-17 | no assertion criteria provided | clinical testing | The JAG1 c.3521C>T variant is predicted to result in the amino acid substitution p.Pro1174Leu. This variant has been reported in individuals with congenital hypothyroidism; however, both patients also harbored variants in the DUOX2 gene (Table S3, Yamaguchi et al. 2020. PubMed ID: 32459320; Table 2, Li et al. 2024. PubMed ID: 38468821). This variant is reported in 0.11% of alleles in individuals of East Asian descent in gnomAD which may be too common to be a primary cause of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |