ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.1323T>C (p.Tyr441=)

gnomAD frequency: 0.00791  dbSNP: rs116660078
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081556 SCV000113487 benign not specified 2012-10-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341157 SCV000358598 likely benign ALG6-congenital disorder of glycosylation 1C 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000081556 SCV000520328 benign not specified 2016-03-08 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.
Genome-Nilou Lab RCV000341157 SCV001716355 benign ALG6-congenital disorder of glycosylation 1C 2021-05-18 criteria provided, single submitter clinical testing
Invitae RCV000341157 SCV001717867 benign ALG6-congenital disorder of glycosylation 1C 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003407462 SCV004128230 benign not provided 2024-02-01 criteria provided, single submitter clinical testing ALG6: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003915082 SCV004734100 benign ALG6-related disorder 2020-02-20 criteria provided, single submitter 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).
Genetic Services Laboratory, University of Chicago RCV000081556 SCV000150233 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.
Natera, Inc. RCV000341157 SCV001456286 benign ALG6-congenital disorder of glycosylation 1C 2020-09-16 no assertion criteria provided clinical testing

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