ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.592C>T (p.Arg198Ter)

gnomAD frequency: 0.00001  dbSNP: rs121918113
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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 RCV000019380 SCV002203321 pathogenic Brody myopathy 2021-09-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg198*) 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 not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with Brody myopathy (PMID: 8841193). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 17802).
OMIM RCV000019380 SCV000039670 pathogenic Brody myopathy 1996-10-01 no assertion criteria provided literature only

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