Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000708229 | SCV000837339 | likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 1 | 2018-02-02 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 3-8 of the ENG gene. It preserves the integrity of the reading frame. A similar variant has been reported in an individual affected with probable hereditary hemorrhagic telangiectasia (PMID: 21158752). This variant is also known as c.220-?_1135+? in the literature. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. Several missense substitutions in the deleted region (p.Trp149Cys, p.Leu221Pro and p.Gly331Ser) have been determined to be pathogenic (PMID: 9554745, 16690726, 10545596, 10749981, 22991266, 15880681, 15517393, 16690726, 19767588). This suggests that the deleted region is critical for ENG protein function and therefore it may also be pathogenic. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Invitae | RCV001377347 | SCV001574655 | likely pathogenic | Hereditary hemorrhagic telangiectasia | 2018-01-14 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 3-8 of the ENG gene. It preserves the integrity of the reading frame. A similar variant has been reported in an individual affected with probable hereditary hemorrhagic telangiectasia (PMID: 21158752). This variant is also known as c.220-?_1135+? in the literature. Several missense substitutions in the deleted region (p.Trp149Cys, p.Leu221Pro and p.Gly331Ser) have been determined to be pathogenic (PMID: 9554745, 16690726, 10545596, 10749981, 22991266, 15880681, 15517393, 16690726, 19767588). This suggests that the deleted region is critical for ENG protein function and therefore it may also be pathogenic. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. ,In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |