Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169514 | SCV000220984 | likely pathogenic | Infantile hypophosphatasia | 2014-12-23 | criteria provided, single submitter | literature only | |
Invitae | RCV001850403 | SCV002130241 | pathogenic | not provided | 2023-09-05 | 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: 189102). This premature translational stop signal has been observed in individual(s) with a child with hypophosphatasia (PMID: 20049532). This variant is present in population databases (rs755529290, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Tyr297*) 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). |
Baylor Genetics | RCV003468845 | SCV004191870 | pathogenic | Adult hypophosphatasia | 2023-10-20 | criteria provided, single submitter | clinical testing |