ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.3380C>T (p.Ala1127Val) (rs191280213)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000427 SCV001157237 uncertain significance not specified 2019-05-27 criteria provided, single submitter clinical testing The TRIP11 c.3380C>T; p.Ala1127Val variant (rs191280213), to our knowledge, is not described in the medical literature or in gene-specific databases. It is observed in the general population at an overall frequency of 0.013% (35/276454 alleles) in the Genome Aggregation Database. The alanine at codon 1127 is moderately conserved, but computational algorithms (PolyPhen-2: possibly damaging, SIFT: tolerated) predict conflicting effects of this variant on protein structure/function. Due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.
Invitae RCV001242515 SCV001415609 uncertain significance Achondrogenesis, type IA 2019-11-08 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1127 of the TRIP11 protein (p.Ala1127Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs191280213, ExAC 0.03%). This variant has not been reported in the literature in individuals with TRIP11-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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