Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001884220 | SCV002153479 | pathogenic | not provided | 2021-12-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ALPL-related conditions. This variant is present in population databases (rs761836226, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Trp153*) 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). |
Baylor Genetics | RCV003464207 | SCV004193028 | likely pathogenic | Adult hypophosphatasia | 2023-05-10 | criteria provided, single submitter | clinical testing |