Submissions for variant NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser)

gnomAD frequency: 0.00160  dbSNP: rs200926225

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001535427	SCV000243315	likely benign	not provided	2020-07-31	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24291220)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000189669	SCV000269863	benign	not specified	2016-02-09	criteria provided, single submitter	clinical testing	p.Gly165Ser in exon 2 of TBC1D24: This variant is not expected to have clinical significance because it has been identified in 0.5% (51/9574) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200926225).
Invitae	RCV000466794	SCV000560540	likely benign	Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24	2024-01-25	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000660402	SCV000782484	uncertain significance	Developmental and epileptic encephalopathy, 16	2016-09-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314766	SCV000847531	likely benign	Inborn genetic diseases	2018-10-11	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	RCV003907666	SCV004725667	likely benign	TBC1D24-related condition	2021-01-28	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).