Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665524 | SCV000789662 | likely pathogenic | Infantile hypophosphatasia | 2017-02-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003558484 | SCV004291736 | pathogenic | not provided | 2023-06-12 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 550707). This premature translational stop signal has been observed in individual(s) with hypophosphatasia (PMID: 27312557). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln347*) 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). For these reasons, this variant has been classified as Pathogenic. |