ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly)

gnomAD frequency: 0.00087  dbSNP: rs141467923
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710656 SCV000840905 likely benign not provided 2018-01-24 criteria provided, single submitter clinical testing
Invitae RCV001078886 SCV001113681 likely benign ALG9 congenital disorder of glycosylation 2023-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000710656 SCV002562268 uncertain significance not provided 2023-04-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003965460 SCV004785636 likely benign ATP6V0A2-related condition 2023-04-24 criteria provided, single submitter 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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