ClinVar Miner

Submissions for variant NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) (rs121917851)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000055797 SCV000220490 likely pathogenic Ataxia with vitamin E deficiency 2014-07-08 criteria provided, single submitter literature only
GeneReviews RCV000055797 SCV000086766 pathologic Ataxia with vitamin E deficiency 2013-06-27 no assertion criteria provided curation Converted during submission to Pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000055797 SCV000920331 pathogenic Ataxia with vitamin E deficiency 2018-12-24 criteria provided, single submitter clinical testing Variant summary: TTPA c.400C>T (p.Arg134X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.6e-05 in 246084 control chromosomes (gnomAD). c.400C>T has been reported in the literature in multiple homozygous and compound heterozygous individuals affected with Ataxia with Vitamin E Deficiency (Cavalier 1998, Euch-Fayache 2014, Elkamil 2015). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000009712 SCV000029930 pathogenic Ataxia, Friedreich-like, with isolated vitamin E deficiency 1998-02-01 no assertion criteria provided literature only

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