ClinVar Miner

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

gnomAD frequency: 0.00019  dbSNP: rs191280213
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Total submissions: 3
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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 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1127 of the TRIP11 protein (p.Ala1127Val). This variant is present in population databases (rs191280213, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. ClinVar contains an entry for this variant (Variation ID: 810959). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TRIP11 protein function. 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.
Ambry Genetics RCV002549133 SCV003729481 uncertain significance Inborn genetic diseases 2022-07-26 criteria provided, single submitter clinical testing The c.3380C>T (p.A1127V) alteration is located in exon 11 (coding exon 11) of the TRIP11 gene. This alteration results from a C to T substitution at nucleotide position 3380, causing the alanine (A) at amino acid position 1127 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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