ClinVar Miner

Submissions for variant NM_024665.6(TBL1XR1):c.1387G>A (p.Asp463Asn) (rs1560098548)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689534 SCV000817188 likely pathogenic Pierpont syndrome 2018-05-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 463 of the TBL1XR1 protein (p.Asp463Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with TBL1XR1-related disease (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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