ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.176G>C (p.Arg59Pro)

dbSNP: rs1298276806
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005235585 SCV005882162 pathogenic not provided 2024-09-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 35051358)
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001797186 SCV001738371 pathogenic Neurodevelopmental disorder 2021-06-22 no assertion criteria provided research

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