Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410316 | SCV000485489 | likely pathogenic | Infantile hypophosphatasia | 2015-12-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001050992 | SCV001215125 | pathogenic | not provided | 2024-01-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg30*) 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 hypophosphatasia (PMID: 24145968). ClinVar contains an entry for this variant (Variation ID: 370232). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002502420 | SCV002810551 | pathogenic | Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia | 2021-11-09 | criteria provided, single submitter | clinical testing |