ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.1418C>T (p.Thr473Ile)

dbSNP: rs1560091765
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713771 SCV000844401 uncertain significance not provided 2018-04-26 criteria provided, single submitter clinical testing
Invitae RCV001868333 SCV002174107 uncertain significance Pierpont syndrome 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 473 of the TBL1XR1 protein (p.Thr473Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TBL1XR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 586782). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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