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

gnomAD frequency: 0.00324  dbSNP: rs184639841

Total submissions: 12

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.
Eurofins Ntd Llc (ga)	RCV000118575	SCV000232130	benign	not specified	2014-12-30	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham 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 Laboratory Services, Illumina	RCV000268514	SCV000396216	likely benign	Familial infantile myoclonic epilepsy	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	Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24	2024-01-29	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	RCV002316322	SCV000850355	likely benign	Inborn genetic diseases	2016-10-31	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.
CeGaT Center for Human Genetics Tuebingen	RCV000710263	SCV001335036	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TBC1D24: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics	RCV002490814	SCV002798391	benign	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65	2021-07-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710263	SCV001932929	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710263	SCV001968135	likely benign	not provided		no assertion criteria provided	clinical testing