ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) (rs41301481)

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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 RCV000359112 SCV000345393 likely benign not specified 2016-09-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000755412 SCV000389569 likely benign Achondrogenesis, type IA 2018-01-13 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.
GeneDx RCV000359112 SCV000516905 likely benign not specified 2018-01-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000359112 SCV000605433 uncertain significance not specified 2018-08-22 criteria provided, single submitter clinical testing The TRIP11 c.3604A>C, p.Asn1202His variant (rs41301481) has not been reported in the medical literature, but is listed in ClinVar (Variation ID: 290765). It is observed in the general population databases at a frequency of 0.08 percent in the 1000 Genomes Project (4/5008 alleles), 0.26 percent in the Exome Variant Server (34/13006 alleles), and 0.2 percent in the Genome Aggregation Database (565/282,578 alleles, 2 homozygotes). The asparagine at position 1202 is highly conserved (Alamut v2.11), and computational algorithms (PolyPhen-2: probably damaging; SIFT: deleterious) are deleterious on the variant's impact on TRIP11 protein structure or function. Although evidence suggests that p.Asn1202His may be a rare benign variant, there is insufficient information to determine its clinical significance with certainty.
Invitae RCV000755412 SCV001107640 likely benign Achondrogenesis, type IA 2019-12-31 criteria provided, single submitter clinical testing

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