Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002594376 | SCV002957832 | pathogenic | not provided | 2023-10-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg272Alafs*5) 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 premature translational stop signal has been observed in individual(s) with clinical features of hypophosphatasia (PMID: 29236161). ClinVar contains an entry for this variant (Variation ID: 1916165). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003465790 | SCV004193272 | likely pathogenic | Adult hypophosphatasia | 2023-02-20 | criteria provided, single submitter | clinical testing |