ClinVar Miner

Submissions for variant NM_032382.5(COG8):c.386T>C (p.Val129Ala)

gnomAD frequency: 0.00101  dbSNP: rs146248068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001463910 SCV001667864 likely benign COG8-congenital disorder of glycosylation 2023-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000872430 SCV002757269 uncertain significance not provided 2022-05-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003948186 SCV004760425 likely benign COG8-related disorder 2022-02-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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