ClinVar Miner

Submissions for variant NM_001378687.1(ATP2C1):c.1356C>A (p.Tyr452Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003006477 SCV003311542 pathogenic not provided 2022-02-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATP2C1-related conditions. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr452*) in the ATP2C1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP2C1 are known to be pathogenic (PMID: 10615129, 10767338, 11841554).
Fulgent Genetics, Fulgent Genetics RCV005034582 SCV005663521 likely pathogenic Familial benign pemphigus 2024-03-06 criteria provided, single submitter clinical testing

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