Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001293547 | SCV001482145 | likely pathogenic | Bardet-Biedl syndrome | 2021-02-09 | criteria provided, single submitter | clinical testing | Variant summary: TTC8 c.529C>T (p.Gln177X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4e-06 in 250434 control chromosomes (gnomAD). To our knowledge, no occurrence of c.529C>T in individuals affected with Bardet-Biedl Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Invitae | RCV001293547 | SCV002231640 | pathogenic | Bardet-Biedl syndrome | 2022-03-26 | 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: 997900). This variant has not been reported in the literature in individuals affected with TTC8-related conditions. This variant is present in population databases (rs376035653, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln177*) in the TTC8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TTC8 are known to be pathogenic (PMID: 16308660, 16877420, 19797195, 21052717, 30886724). |
| Baylor Genetics | RCV003462854 | SCV004205170 | likely pathogenic | Retinitis pigmentosa 51 | 2023-10-31 | criteria provided, single submitter | clinical testing |