ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.159G>A (p.Val53=)

gnomAD frequency: 0.00125  dbSNP: rs148925426
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000710658 SCV000840907 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080238 SCV001012610 benign Brody myopathy 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000710658 SCV001765209 uncertain significance not provided 2020-06-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
PreventionGenetics, part of Exact Sciences RCV003965461 SCV004784405 likely benign ATP2A1-related disorder 2020-11-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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