ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) (rs137974620)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724732 SCV000226281 uncertain significance not provided 2017-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000174888 SCV000491065 uncertain significance not specified 2016-12-15 criteria provided, single submitter clinical testing The E1713Q variant in the TRIP11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The NHLBI ESP Exome Sequencing Project reports E1713Q was observed in 29/8596 (0.34%) alleles from individuals of European background, indicating it may be a rare variant in this population, although no individuals within this control group were reported as homozygous for this variant. The E1713Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret E1713Q as a variant of uncertain significance.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000174888 SCV000605431 uncertain significance not specified 2018-07-19 criteria provided, single submitter clinical testing The TRIP11 c.5137G>C; p.Glu1713Gln variant (rs137974620), to our knowledge, is not described in the medical literature but is reported as a variant of uncertain significance in ClinVar (Variation ID: 194506). It is observed in the general population at an overall frequency of 0.21% (582/276722 alleles, 1 homozygote) in the Genome Aggregation Database. The glutamic acid at codon 1713 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 RCV001085934 SCV001107517 likely benign Achondrogenesis, type IA 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001085934 SCV001278656 likely benign Achondrogenesis, type IA 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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