Submissions for variant NM_207346.3(TSEN54):c.1368C>T (p.Asp456=)

gnomAD frequency: 0.00075  dbSNP: rs138560086

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173929	SCV000225109	benign	not specified	2015-03-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000173929	SCV000249220	benign	not specified	2015-09-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000264497	SCV000406475	benign	Pontoneocerebellar hypoplasia	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000827027	SCV000968639	benign	not provided	2020-02-09	criteria provided, single submitter	clinical testing
Invitae	RCV000827027	SCV001018371	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000827027	SCV004144237	benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	TSEN54: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003947467	SCV004772569	benign	TSEN54-related condition	2019-11-14	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).