ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.122G>A (p.Gly41Asp)

dbSNP: rs1234470093
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001971780 SCV002263767 uncertain significance Pierpont syndrome 2021-02-02 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 41 of the TBL1XR1 protein (p.Gly41Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TBL1XR1 protein function. 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).

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