ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.855C>G (p.Tyr285Ter)

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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 RCV002791125 SCV003199301 pathogenic not provided 2022-05-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr285*) in the ALPL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALPL are known to be pathogenic (PMID: 3174660, 10679946, 19500388). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALPL-related conditions. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004571261 SCV005057846 pathogenic Adult hypophosphatasia 2024-02-28 criteria provided, single submitter clinical testing

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