ClinVar Miner

Submissions for variant NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) (rs1557539450)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000755727 SCV000883224 likely pathogenic SPINOCEREBELLAR ATAXIA 47 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Spinocerebellar ataxia 47, autosomal dominant. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM6 => Assumed de novo, but without confirmation of paternity and maternity (https://www.ncbi.nlm.nih.gov/pubmed/29474920). PS3 => Well-established functional studies show a deleterious effect (https://www.ncbi.nlm.nih.gov/pubmed/29474920).
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090921 SCV001246695 pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing

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