ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.2311G>T (p.Glu771Ter)

dbSNP: rs972494690
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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 RCV000810209 SCV000950402 pathogenic Brody myopathy 2022-12-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 654280). This sequence change creates a premature translational stop signal (p.Glu771*) 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ATP2A1-related conditions.
Athena Diagnostics RCV001289247 SCV001476938 likely pathogenic not provided 2020-04-30 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity.

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