ClinVar Miner

Submissions for variant NM_000370.3(TTPA):c.218_219dup (p.Tyr74fs)

dbSNP: rs766675875
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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 RCV001975223 SCV002242619 pathogenic not provided 2024-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr74Ilefs*11) 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). This variant is present in population databases (rs766675875, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with ataxia with vitamin E deficiency (PMID: 15300460). This variant is also known as 219insAT. ClinVar contains an entry for this variant (Variation ID: 1459425). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464323 SCV004207491 pathogenic Familial isolated deficiency of vitamin E 2024-01-30 criteria provided, single submitter clinical testing

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