ClinVar Miner

Submissions for variant NM_000370.3(TTPA):c.652dup (p.Ile218fs)

dbSNP: rs1805352418
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001864458 SCV002130193 pathogenic not provided 2021-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the TTPA protein in which other variant(s) (p.Leu243Trpfs*21) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with TTPA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile218Asnfs*2) in the TTPA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 61 amino acid(s) of the TTPA protein.
Fulgent Genetics, Fulgent Genetics RCV005040451 SCV005677251 likely pathogenic Familial isolated deficiency of vitamin E 2024-03-07 criteria provided, single submitter clinical testing

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