Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409870 | SCV000486084 | likely pathogenic | Infantile hypophosphatasia | 2016-03-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001850948 | SCV002245711 | pathogenic | not provided | 2022-10-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with hypophosphatasia (PMID: 15694177). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser310Argfs*27) 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). |
Baylor Genetics | RCV003470331 | SCV004193139 | pathogenic | Adult hypophosphatasia | 2023-03-27 | criteria provided, single submitter | clinical testing |