ClinVar Miner

Submissions for variant NM_000701.8(ATP1A1):c.2809_2819del (p.Cys937fs)

dbSNP: rs1653448255
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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 RCV001290135 SCV001469117 likely pathogenic Charcot-marie-tooth disease, axonal, type 2DD 2021-01-18 criteria provided, single submitter clinical testing The variant c.2809_2819del (p.(Cys937Glufs*20)) in exon 20 of the ATP1A1-gene is not found in known databases (ExAC or gnomAD) and leads to a frameshift within the coding sequence of the ATP1A1-gene, within a protein domain, resulting in a truncated protein. Thus, we classify this variant as a likely pathogenic varaint. ACMG criteria used for classification: PVS1, PM2.

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