ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.716T>C (p.Leu239Pro)

gnomAD frequency: 0.00001  dbSNP: rs1436524252
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001973025 SCV002248595 uncertain significance Achondrogenesis, type IA 2021-07-04 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 239 of the TRIP11 protein (p.Leu239Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. This variant is not present in population databases (ExAC no frequency).

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