ClinVar Miner

Submissions for variant NM_001130021.3(ATP6V0A1):c.287A>T (p.Asp96Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV004731686 SCV005331510 uncertain significance Developmental and epileptic encephalopathy 104; Neurodevelopmental disorder with epilepsy and brain atrophy 2023-08-01 criteria provided, single submitter clinical testing The p.Asp96Val variant in the ATP6V0A1 gene has not been previously reported in association with disease and was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). The ATP6V0A1 gene has fewer missense variants in the general population than expected. A low rate of missense variation may suggest that this gene is intolerant to missense variation. In silico tools predict that the p.Asp96Val variant is deleterious; however, these predictions have not been tested directly. Using ACMG guidelines, this variant was classified as a variant of uncertain significance (ACMG evidence codes used: PM2_supporting, PP2, PP3).

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