ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.444G>A (p.Met148Ile)

gnomAD frequency: 0.00001  dbSNP: rs1339329131
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217806 SCV001389658 uncertain significance Pierpont syndrome 2022-11-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TBL1XR1-related conditions. 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 not expected to disrupt TBL1XR1 protein function. ClinVar contains an entry for this variant (Variation ID: 946858). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 148 of the TBL1XR1 protein (p.Met148Ile).
GeneDx RCV001760203 SCV002000494 uncertain significance not provided 2021-04-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
New York Genome Center RCV003448378 SCV004176049 uncertain significance Pierpont syndrome; Intellectual disability, autosomal dominant 41 2023-06-06 criteria provided, single submitter clinical testing

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