ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu)

gnomAD frequency: 0.00103  dbSNP: rs146603801
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001078924 SCV000374561 uncertain significance 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, 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.
Eurofins Ntd Llc (ga) RCV000734273 SCV000862399 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing
Invitae RCV001078924 SCV001015403 likely benign ALG8 congenital disorder of glycosylation 2024-01-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV001078924 SCV001526946 uncertain significance ALG8 congenital disorder of glycosylation 2018-09-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000734273 SCV001813850 uncertain significance not provided 2020-01-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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