ClinVar Miner

Submissions for variant NM_018294.6(CWF19L1):c.467del (p.Pro156fs)

dbSNP: rs879255654
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268758 SCV001447922 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
3billion RCV000239655 SCV002318774 pathogenic Autosomal recessive spinocerebellar ataxia 17 2022-03-22 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. This variant has been reported as pathogenic (ClinVar ID: VCV000253212, PMID:27016154), It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
CeGaT Center for Human Genetics Tuebingen RCV001268758 SCV002544455 pathogenic not provided 2023-07-01 criteria provided, single submitter clinical testing CWF19L1: PVS1, PM2, PM3
OMIM RCV000239655 SCV000298006 pathogenic Autosomal recessive spinocerebellar ataxia 17 2016-08-24 no assertion criteria provided literature only

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