ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.902_903insSVAelement

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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 RCV001089780 SCV001245274 pathogenic Brody myopathy 2019-09-16 criteria provided, single submitter clinical testing This sequence change inserts a large fragment of DNA, likely a transposable element, in exon 8 of the ATP2A1 gene (c.902_903insSVA), causing a frameshift at codon 301 (p.Ala301fs). The exact size and sequence of the insertion cannot be determined by the current assay. However, the insertion is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ATP2A1-related conditions. Retrotransposon insertions including LINE1 (L1), Alu, and SVA (SINE-VNTR-Alu) have been reported to be disease-causing through disruption of either a coding region or splice site (PMID: 19763152, 20307669, 22406018) and loss-of-function variants in ATP2A1 are known to be pathogenic (PMID: 8841193, 10914677, 23911890). For these reasons, this variant has been classified as Pathogenic.

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