Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380339 | SCV001578343 | pathogenic | Hereditary hemorrhagic telangiectasia | 2023-05-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1068703). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary hemorrhagic telangiectasia (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro256Hisfs*71) in the ENG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500). |
Ambry Genetics | RCV002404897 | SCV002674204 | pathogenic | Cardiovascular phenotype | 2014-05-23 | criteria provided, single submitter | clinical testing | The c.767_786del20 pathogenic mutation, located in coding exon 6 of the ENG gene, results from a deletion of 20 nucleotides between nucleotide positions 767 and 786, causing a translational frameshift with a predicted alternate stop codon (p.P256Hfs*71). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |