Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667084 | SCV000791480 | likely pathogenic | Infantile hypophosphatasia | 2017-05-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003465462 | SCV004193217 | pathogenic | Adult hypophosphatasia | 2023-03-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003558490 | SCV004291731 | pathogenic | not provided | 2022-11-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys322Argfs*44) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 551914). This premature translational stop signal has been observed in individual(s) with hypophosphatasia (PMID: 12815606). |