ClinVar Miner

Submissions for variant NM_001020658.2(PUM1):c.213dup (p.Ala72fs)

dbSNP: rs2124008285
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272738 SCV002556862 pathogenic Spinocerebellar ataxia 47 2020-09-07 criteria provided, single submitter clinical testing A de novo novel heterozygous frameshift variant was detected in the PUM1 gene. Pathogenic PUM1 mutations have been associated with neurodevelopmental disorders and seizures (PMID: 31859446; PMID: 29474920). Alternate transcript isoforms have been described for PUM1; this variant is in exon 2 of transcript NM_001020658.1 and expressed in multiple tissues.

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