ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755412 SCV000605433 uncertain significance not provided 2017-11-07 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 (551/276932 alleles, 2 homozygotes). The asparagine at position 1202 is highly conserved (Alamut v2.10), but computational algorithms (Align GVGD: C0; Mutation Taster: disease causing; PolyPhen-2: probably damaging; SIFT: tolerated) are inconclusive 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. References: 1000 Genomes Project: http://www.internationalgenome.org/ Exome Variant Server: http://evs.gs.washington.edu/EVS/[ Genome Aggregation Database: http://gnomad.broadinstitute.org/
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000359112 SCV000345393 likely benign not specified 2016-09-01 criteria provided, single submitter clinical testing
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.
Illumina Clinical Services Laboratory,Illumina RCV000299930 SCV000389569 uncertain significance Achondrogenesis 2016-06-14 criteria provided, single submitter clinical testing

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