Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| SIB Swiss Institute of Bioinformatics | RCV000757981 | SCV000996460 | pathogenic | Goldblatt syndrome | 2019-06-27 | criteria provided, single submitter | curation | This variant is interpreted as a Pathogenic for Odontochondrodysplasia, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PVS1, PM3. |
| Invitae | RCV000005843 | SCV004297160 | pathogenic | Achondrogenesis, type IA | 2023-08-30 | 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: 5508). This premature translational stop signal has been observed in individual(s) with achondrogenesis and/or odontochondrodysplasia (PMID: 20089971, 30728324). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg264*) in the TRIP11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRIP11 are known to be pathogenic (PMID: 20089971, 23956106). |
| OMIM | RCV000005843 | SCV000026025 | pathogenic | Achondrogenesis, type IA | 2010-01-21 | no assertion criteria provided | literature only | |
| OMIM | RCV000757981 | SCV001571237 | pathogenic | Goldblatt syndrome | 2010-01-21 | no assertion criteria provided | literature only |