Submissions for variant NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg)

gnomAD frequency: 0.00024  dbSNP: rs77585883

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175683	SCV000227218	benign	not specified	2015-03-19	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000175683	SCV000269862	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Cys8Arg in exon 2 of TBC1D24: This variant is not expected to have clinical sign ificance because it has been identified in 3.6% (7/194) of Han Chinese chromosom es from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih. gov/projects/SNP; dbSNP rs77585883).
Illumina Laboratory Services, Illumina	RCV000315686	SCV000396200	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.
GeneDx	RCV000553843	SCV000514848	likely benign	not provided	2021-04-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24291220, 30180405, 29924869)
Invitae	RCV001085275	SCV000654202	likely benign	Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000553843	SCV001150738	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	TBC1D24: BP4, BS2
Ambry Genetics	RCV002426842	SCV002731752	likely benign	Inborn genetic diseases	2018-09-27	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.
PreventionGenetics, part of Exact Sciences	RCV003927608	SCV004738298	benign	TBC1D24-related condition	2019-10-02	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).