Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001811617 | SCV001160380 | uncertain significance | not provided | 2019-09-02 | criteria provided, single submitter | clinical testing | The BMPR2 c.2228A>G; p.Tyr743Cys variant (rs148257675) has been identified in a patient with Ebstein anomaly, but a causal role for this variant was not established (Sicko 2016). It is observed in the general population at an overall frequency of 0.0032% (9/282862 alleles) in the Genome Aggregation Database. The tyrosine at codon 743 is highly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. However, due to limited information regarding this variant, its clinical significance cannot be determined with certainty. REFERENCES Sicko R et al. Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. PLoS One. 2016 Oct 27;11(10):e0165174. |
| Illumina Laboratory Services, |
RCV001137607 | SCV001297569 | uncertain significance | Pulmonary hypertension, primary, 1 | 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. |