ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.392T>A (p.Val131Glu)

gnomAD frequency: 0.00001  dbSNP: rs778009285
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001987530 SCV002220354 uncertain significance Achondrogenesis, type IA 2021-09-06 criteria provided, single submitter clinical testing 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: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. This variant is present in population databases (rs778009285, ExAC 0.001%). This sequence change replaces valine with glutamic acid at codon 131 of the TRIP11 protein (p.Val131Glu). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glutamic acid.

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