Submissions for variant NM_013339.4(ALG6):c.751A>G (p.Thr251Ala)

gnomAD frequency: 0.00705  dbSNP: rs61755863

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224221	SCV000280703	likely benign	not provided	2016-02-11	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000116318	SCV000523290	benign	not specified	2017-01-04	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001079900	SCV000769712	benign	ALG6-congenital disorder of glycosylation 1C	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001079900	SCV001257840	likely benign	ALG6-congenital disorder of glycosylation 1C	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Fulgent Genetics, Fulgent Genetics	RCV001079900	SCV002809165	likely benign	ALG6-congenital disorder of glycosylation 1C	2022-01-24	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116318	SCV000150238	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.