ClinVar Miner

Submissions for variant NM_001020658.2(PUM1):c.131C>T (p.Ser44Leu)

gnomAD frequency: 0.00002  dbSNP: rs528903842
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV002225165 SCV002503676 uncertain significance Spinocerebellar ataxia 47 2020-02-07 criteria provided, single submitter clinical testing This sequence change is predicted to replace serine with leucine at codon 44 of the PUM1 protein (p.Ser44Leu). The serine residue is conserved within mammals and birds (100 vertebrates, UCSC), and there is a large physicochemical difference between serine and leucine. It is located in a low complexity region with no known function. The variant is present in a large population cohort at a frequency of 0.002% (rs528903842, 4/251,480 alleles, 0 homozygotes in gnomAD v2.1 - PM2). It has not been reported in the relevant medical literature or databases. Multiple lines of computational evidence predict a benign effect for the missense substitution (5/6 algorithms - BP4). Based on the classification scheme RMH ACMG Guidelines v1.2.1, this variant is classified as VARIANT of UNCERTAIN SIGNIFICANCE. Following criteria are met: BP4.

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