ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.130_131del (p.Ala44fs)

gnomAD frequency: 0.00001  dbSNP: rs774959381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002278887 SCV002567271 uncertain significance not provided 2022-02-17 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002278887 SCV003450358 pathogenic not provided 2022-01-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala44Hisfs*46) 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 present in population databases (rs774959381, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with ATP8A2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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