Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000722315 | SCV001579017 | pathogenic | not provided | 2023-07-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu332*) 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, 32973344, 33814268). 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. ClinVar contains an entry for this variant (Variation ID: 591139). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003465651 | SCV004193819 | pathogenic | Adult hypophosphatasia | 2022-07-01 | criteria provided, single submitter | clinical testing | |
Gharavi Laboratory, |
RCV000722315 | SCV000853446 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research |