ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.1217C>G (p.Thr406Ser)

dbSNP: rs1020225336
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812562 SCV000952880 uncertain significance Pierpont syndrome 2018-10-29 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 406 of the TBL1XR1 protein (p.Thr406Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TBL1XR1-related disease. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV002352418 SCV002660371 uncertain significance Inborn genetic diseases 2019-06-28 criteria provided, single submitter clinical testing The p.T406S variant (also known as c.1217C>G), located in coding exon 11 of the TBL1XR1 gene, results from a C to G substitution at nucleotide position 1217. The threonine at codon 406 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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