ClinVar Miner

Submissions for variant NM_004320.5(ATP2A1):c.2758C>T (p.Gln920Ter) (rs897301304)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479735 SCV000573708 likely pathogenic not provided 2017-03-03 criteria provided, single submitter clinical testing The Q920X variant in the ATP2A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q920X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q920X variant is a strong candidate for a pathogenic variant.
Invitae RCV000685608 SCV000813093 pathogenic Brody myopathy 2018-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln920*) in the ATP2A1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATP2A1-related disease. ClinVar contains an entry for this variant (Variation ID: 423942). Loss-of-function variants in ATP2A1 are known to be pathogenic (PMID: 8841193, 10914677, 23911890). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics Inc RCV000479735 SCV000840910 likely pathogenic not provided 2018-04-13 criteria provided, single submitter clinical testing

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