Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670188 | SCV000795017 | likely pathogenic | Infantile hypophosphatasia | 2017-10-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003558505 | SCV004291720 | pathogenic | not provided | 2023-08-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 554532). This premature translational stop signal has been observed in individual(s) with hypophosphatasia (PMID: 25731960). This variant is present in population databases (rs760134827, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln143Argfs*22) 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). |