Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411878 | SCV000485828 | likely pathogenic | Infantile hypophosphatasia | 2016-02-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003546559 | SCV004271585 | pathogenic | not provided | 2023-06-16 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 370489). 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 not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His281Thrfs*19) 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). |