Submissions for variant NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)

gnomAD frequency: 0.00094  dbSNP: rs146279300

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000516940	SCV000615952	benign	not specified	2021-02-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001119904	SCV001278355	benign	Spinocerebellar ataxia type 11	2017-10-17	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV002054917	SCV002497766	uncertain significance	not provided	2022-02-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054917	SCV003253814	likely benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905032	SCV004722926	likely benign	TTBK2-related disorder	2022-04-27	no assertion criteria provided	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).