ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=)

gnomAD frequency: 0.00151  dbSNP: rs117632905
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118660 SCV000153074 likely benign not specified 2015-03-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000331735 SCV000472201 uncertain significance Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000891519 SCV001035339 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000891519 SCV001746977 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing TRAPPC9: BP4, BP7
Ambry Genetics RCV002408623 SCV002715506 likely benign Inborn genetic diseases 2018-10-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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