Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000302961 | SCV000344762 | likely pathogenic | not provided | 2016-08-11 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001075670 | SCV001241298 | likely pathogenic | Retinal dystrophy | 2019-03-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000302961 | SCV002220169 | pathogenic | not provided | 2022-03-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg479*) in the TTLL5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TTLL5 are known to be pathogenic (PMID: 24791901, 27162334). This variant is present in population databases (rs753018563, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TTLL5-related conditions. ClinVar contains an entry for this variant (Variation ID: 290244). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |