Submissions for variant NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro)

dbSNP: rs146117200

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000279275	SCV000195221	likely benign	not specified	2017-03-17	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000725690	SCV000338642	uncertain significance	not provided	2015-12-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000269287	SCV000440561	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000725690	SCV000526853	likely benign	not provided	2021-01-31	criteria provided, single submitter	clinical testing
Invitae	RCV000725690	SCV001057770	benign	not provided	2024-01-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917458	SCV004731009	likely benign	TSEN2-related condition	2019-04-01	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).