ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.4050A>C (p.Glu1350Asp) (rs548160101)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000406289 SCV000389565 uncertain significance Achondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000704676 SCV000833634 uncertain significance Achondrogenesis, type IA 2018-05-04 criteria provided, single submitter clinical testing This sequence change replaces glutamate with aspartate at codon 1350 of the TRIP11 protein (p.Glu1350Asp). The glutamate residue is weakly conserved and there is a small physicochemical difference between glutamate and aspartate. This variant is present in population databases (rs548160101, ExAC 0.03%). This variant has not been reported in the literature in individuals with TRIP11-related disease. ClinVar contains an entry for this variant (Variation ID: 314945). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. The glutamate amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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