Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001802541 | SCV002048813 | uncertain significance | Telangiectasia, hereditary hemorrhagic, type 1 | 2020-11-25 | criteria provided, single submitter | clinical testing | The ENG c.501C>A; p.Ser167Arg variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The serine at codon 167 is weakly conserved, and computational analyses predict that this variant is neutral (REVEL: 0.057). Due to limited information, the clinical significance of the p.Ser167Arg variant is uncertain at this time. |