Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001873450 | SCV002143664 | benign | Hereditary hemorrhagic telangiectasia | 2023-08-14 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002445377 | SCV002683185 | uncertain significance | Cardiovascular phenotype | 2015-08-06 | criteria provided, single submitter | clinical testing | The p.V315M variant (also known as c.943G>A), located in coding exon 7 of the ENG gene, results from a G to A substitution at nucleotide position 943. The valine at codon 315 is replaced by methionine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly 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 variant remains unclear. |
| ARUP Laboratories, |
RCV003640954 | SCV004564211 | uncertain significance | Telangiectasia, hereditary hemorrhagic, type 1 | 2023-11-08 | criteria provided, single submitter | clinical testing | The ENG c.943G>A; p.Val315Met variant (rs763508329), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 871270). This variant is only observed on five alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. Another variant at this codon has been reported in an individual with hereditary hemorrhagic telangiectasia (Kitayama 2021) but the clinical significance of this variant is uncertain. Computational analyses are uncertain whether the p.Val315Met variant is neutral or deleterious (REVEL: 0.277). Due to limited information, the clinical significance of the variant is uncertain at this time. References: Kitayama K et al. Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia. BMC Med Genomics. 2021 Dec 6;14(1):288. PMID: 34872578 |