ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.321_338dup (p.Ala118_Ser119insAlaAlaAlaAlaAlaAla)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003860913 SCV004667482 uncertain significance Pierpont syndrome 2023-08-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with TBL1XR1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant, c.321_338dup, results in the insertion of 6 amino acid(s) of the TBL1XR1 protein (p.Ala113_Ala118dup), but otherwise preserves the integrity of the reading frame.

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