ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.1767G>A (p.Thr589=)

gnomAD frequency: 0.00004  dbSNP: rs148638285
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001973897 SCV002265691 uncertain significance Brody myopathy 2022-06-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with ATP2A1-related conditions. This variant is present in population databases (rs148638285, gnomAD 0.02%). This sequence change affects codon 589 of the ATP2A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATP2A1 protein.

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