ClinVar Miner

Submissions for variant NM_001001331.4(ATP2B2):c.1503del (p.Gly502fs)

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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 RCV005206101 SCV005845178 pathogenic not provided 2024-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly457Alafs*3) in the ATP2B2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP2B2 are known to be pathogenic (PMID: 30535804). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATP2B2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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