Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412204 | SCV000487042 | likely pathogenic | Familial isolated deficiency of vitamin E | 2016-09-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001865272 | SCV002128376 | pathogenic | not provided | 2023-07-15 | criteria provided, single submitter | clinical testing | Disruption of the initiator codon has been observed in individuals with ataxia with isolated vitamin E deficiency (PMID: 10360777, 31970222). This sequence change affects the initiator methionine of the TTPA mRNA. The next in-frame methionine is located at codon 209. This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 371454). This variant disrupts the p.Ala120 amino acid residue in TTPA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9463307, 19566498). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |