Submissions for variant NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr)

gnomAD frequency: 0.02180  dbSNP: rs17825668

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000152777	SCV000202165	benign	not specified	2014-04-08	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000152777	SCV000257736	benign	not specified	2015-02-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000152777	SCV000314244	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000527827	SCV000374560	benign	ALG8 congenital disorder of glycosylation	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.
Invitae	RCV000527827	SCV000649502	benign	ALG8 congenital disorder of glycosylation	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001562670	SCV001785474	benign	not provided	2021-09-30	criteria provided, single submitter	clinical testing