Submissions for variant NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=)

gnomAD frequency: 0.00038  dbSNP: rs201374999

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128363	SCV000171957	benign	not specified	2014-05-16	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 Laboratory Services, Illumina	RCV000376259	SCV000396204	likely benign	Familial infantile myoclonic epilepsy	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.
Invitae	RCV000467479	SCV000560532	benign	Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24	2024-01-19	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000128363	SCV000615753	benign	not specified	2017-01-24	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000128363	SCV000711544	benign	not specified	2016-06-02	criteria provided, single submitter	clinical testing	p.Thr68Thr in exon 2 of TBC1D24: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.7% (123/16504) of South Asian chromosomes including 2 homozygotes by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201374999).
Ambry Genetics	RCV002312622	SCV000846704	likely benign	Inborn genetic diseases	2016-07-08	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.
Eurofins Ntd Llc (ga)	RCV000128363	SCV000860270	benign	not specified	2018-04-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529565	SCV002063472	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	TBC1D24: BP4, BP7
Genetic Services Laboratory, University of Chicago	RCV000128363	SCV002070153	benign	not specified	2017-07-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952678	SCV004774625	likely benign	TBC1D24-related condition	2019-03-22	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529565	SCV001743211	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529565	SCV001932476	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529565	SCV001969765	likely benign	not provided		no assertion criteria provided	clinical testing