Submissions for variant NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=)

gnomAD frequency: 0.00026  dbSNP: rs368182922

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860771	SCV001000919	benign	not provided	2025-01-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001147178	SCV001307963	benign	Pontocerebellar hypoplasia type 2D	2018-01-12	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	RCV000860771	SCV001805746	likely benign	not provided	2020-09-29	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001147178	SCV001460954	benign	Pontocerebellar hypoplasia type 2D	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003928324	SCV004746652	benign	SEPSECS-related disorder	2019-05-16	no assertion criteria provided	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).