ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) (rs184639841)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000118575 SCV000152981 likely benign not specified 2013-08-28 criteria provided, single submitter clinical testing
GeneDx RCV000118575 SCV000171966 benign not specified 2013-10-30 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118575 SCV000232130 benign not specified 2014-12-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000118575 SCV000269857 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Tyr442Tyr in exon 7 of TBC1D24: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.6% (49/8380) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs184639841).
Illumina Clinical Services Laboratory,Illumina RCV000268514 SCV000396216 likely benign Myoclonic epilepsy, familial infantile 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.
Invitae RCV001081227 SCV000560538 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
Athena Diagnostics Inc RCV000710263 SCV000615750 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719488 SCV000850355 likely benign Seizures 2016-10-31 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710263 SCV001335036 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing

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