ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.1672_1673dup (p.Leu559fs)

dbSNP: rs1433893346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001333623 SCV001590921 pathogenic Brody myopathy 2021-08-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ATP2A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu559Profs*34) in the ATP2A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP2A1 are known to be pathogenic (PMID: 8841193, 10914677, 23911890).
Revvity Omics, Revvity RCV001333623 SCV002020948 pathogenic Brody myopathy 2020-06-29 criteria provided, single submitter clinical testing

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