ClinVar Miner

Submissions for variant NM_032382.5(COG8):c.5C>T (p.Ala2Val)

gnomAD frequency: 0.00089  dbSNP: rs151318611
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000435196 SCV000511550 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV000765311 SCV000896566 uncertain significance COG8-congenital disorder of glycosylation 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000765311 SCV000940789 uncertain significance COG8-congenital disorder of glycosylation 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2 of the COG8 protein (p.Ala2Val). This variant is present in population databases (rs151318611, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with COG8-related conditions. ClinVar contains an entry for this variant (Variation ID: 377233). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV000435196 SCV001150962 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000765311 SCV001280391 uncertain significance COG8-congenital disorder of glycosylation 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, 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.
Breakthrough Genomics, Breakthrough Genomics RCV000435196 SCV005193470 uncertain significance not provided criteria provided, single submitter not provided

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