ClinVar Miner

Submissions for variant NM_198994.3(TGM6):c.1005G>A (p.Trp335Ter)

gnomAD frequency: 0.00001  dbSNP: rs750743855
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001327983 SCV001513211 likely pathogenic Spinocerebellar ataxia type 35 2020-06-12 criteria provided, single submitter clinical testing The TGM6 variant c.1005G>A (p.(Trp335*)) is found at a population frequency of 0.0011% in the gnomAD database, but not in the homozygous state. In summary and using ACMG criteria PVS1, PM2, PP3 we classify this variant as Likely Pathogenic.

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