ClinVar Miner

Submissions for variant NM_000370.3(TTPA):c.2T>A (p.Met1Lys)

dbSNP: rs786204758
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Total submissions: 2
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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.

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