ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.1419G>A (p.Ser473=)

gnomAD frequency: 0.00003  dbSNP: rs749463179
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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 RCV000542880 SCV000638271 uncertain significance Brody myopathy 2021-08-13 criteria provided, single submitter clinical testing This sequence change affects codon 473 of the ATP2A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATP2A1 protein. This variant also falls at the last nucleotide of exon 12, which is part of the consensus splice site for this exon. This variant is present in population databases (rs749463179, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with ATP2A1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004791545 SCV005411281 uncertain significance not provided 2024-07-09 criteria provided, single submitter clinical testing

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