ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp)

gnomAD frequency: 0.00015  dbSNP: rs376617920
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000271805 SCV000472171 uncertain significance Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000500118 SCV000597544 uncertain significance not specified 2016-05-03 criteria provided, single submitter clinical testing
Invitae RCV000914028 SCV001059187 likely benign not provided 2023-11-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336733 SCV001530199 uncertain significance Intellectual disability, autosomal recessive 13 2018-09-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000914028 SCV001994700 uncertain significance not provided 2021-12-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002523637 SCV003687705 likely benign Inborn genetic diseases 2021-12-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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