Submissions for variant NM_005802.5(TOPORS):c.1730C>A (p.Ser577Tyr)

gnomAD frequency: 0.00137  dbSNP: rs79708790

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000597901	SCV000701715	benign	not specified	2016-09-29	criteria provided, single submitter	clinical testing
Invitae	RCV000957137	SCV001103933	likely benign	not provided	2024-01-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001165484	SCV001327680	benign	Retinitis pigmentosa	2017-04-27	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	RCV000957137	SCV004157639	benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	TOPORS: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003925768	SCV004751737	likely benign	TOPORS-related condition	2019-11-18	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).