ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.1484del (p.Pro495fs)

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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 RCV003029784 SCV003332481 pathogenic not provided 2024-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro495Leufs*38) in the ATP8A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP8A2 are known to be pathogenic (PMID: 28454995, 29531481). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATP8A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2113917). For these reasons, this variant has been classified as Pathogenic.

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