ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.333_350dup (p.Ala113_Ala118dup)

dbSNP: rs1462665726
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232602 SCV001405166 uncertain significance Pierpont syndrome 2021-05-19 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with TBL1XR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 959285). This variant is not present in population databases (ExAC no frequency). This variant, c.333_350dup, results in the insertion of 6 amino acid(s) to the TBL1XR1 protein (p.Ala113_Ala118dup), but otherwise preserves the integrity of the reading frame.

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