ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.118_119insGTCAGTCCATTT (p.Asn40delinsSerGlnSerIleTyr)

dbSNP: rs1717436007
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047165 SCV001211102 uncertain significance Pierpont syndrome 2019-03-30 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 for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with TBL1XR1-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.118_119insGTCAGTCCATTT, is a complex sequence change that results in the deletion of 1 and insertion of 5 amino acids in the TBL1XR1 protein (p.Asn40delinsSerGlnSerIleTyr).

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