ClinVar Miner

Submissions for variant NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser)

gnomAD frequency: 0.00001  dbSNP: rs771145682
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000755734 SCV000883237 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. PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (https://www.ncbi.nlm.nih.gov/pubmed/29474920). PS3 => Well-established functional studies show a deleterious effect PUM1 (https://www.ncbi.nlm.nih.gov/pubmed/29474920).
GeneDx RCV001786417 SCV002028420 likely pathogenic not provided 2021-06-15 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect: inability to suppress ATNX1 and E2F3 (Gennarino et al., 2018); 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 (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30284037, 30316580, 33397688, 33163565, 29474920)
OMIM RCV000755734 SCV000747048 pathogenic Spinocerebellar ataxia 47 2021-01-27 no assertion criteria provided literature only

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