Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666313 | SCV000790584 | likely pathogenic | Familial isolated deficiency of vitamin E | 2017-03-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855457 | SCV002243254 | pathogenic | not provided | 2023-02-05 | 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: 551293). This premature translational stop signal has been observed in individual(s) with clinical features of ataxia with isolated vitamin E deficiency (PMID: 18458655). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Trp76_Arg77delinsTyr*) in the TTPA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TTPA are known to be pathogenic (PMID: 9463307, 26068213). |
Baylor Genetics | RCV000666313 | SCV004207483 | pathogenic | Familial isolated deficiency of vitamin E | 2023-07-09 | criteria provided, single submitter | clinical testing |