ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) (rs72768728)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128367 SCV000171961 benign not specified 2014-05-17 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.
Genetic Services Laboratory,University of Chicago RCV000128367 SCV000249122 likely benign not specified 2015-12-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000128367 SCV000269865 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Phe295Leu in exon 2 of TBC1D24: This variant is not expected to have clinical si gnificance because it has been identified in 1.1% (97/8510) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs72768728).
PreventionGenetics,PreventionGenetics RCV000128367 SCV000307011 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000128367 SCV000343730 benign not specified 2016-07-19 criteria provided, single submitter clinical testing
Invitae RCV001084415 SCV000560533 benign Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514759 SCV000610802 likely benign not provided 2017-09-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514759 SCV000844394 benign not provided 2019-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716648 SCV000847490 benign Seizures 2017-07-12 criteria provided, single submitter clinical testing Insufficient evidence;General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CeGaT Praxis fuer Humangenetik Tuebingen RCV000514759 SCV001150744 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001115525 SCV001273507 likely benign Myoclonic epilepsy, familial infantile 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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