ClinVar Miner

Submissions for variant NM_001128159.3(VPS53):c.869G>A (p.Trp290Ter)

dbSNP: rs370828258
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002266314 SCV002548137 likely pathogenic Pontoneocerebellar hypoplasia 2022-05-31 criteria provided, single submitter clinical testing Variant summary: VPS53 c.869G>A (p.Trp290X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4e-06 in 251210 control chromosomes. To our knowledge, no occurrence of c.869G>A in individuals affected with Pontocerebellar Hypoplasia, Type 2E and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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