ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.223-3T>A (rs750261656)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558558 SCV000630378 uncertain significance Welander distal myopathy 2019-09-27 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the TIA1 gene. It does not directly change the encoded amino acid sequence of the TIA1 protein. This variant is present in population databases (rs750261656, ExAC 0.02%) but has not been reported in the literature in individuals with a TIA1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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