Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001888085 | SCV002127029 | pathogenic | not provided | 2024-01-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val161Trpfs*4) 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). This variant has not been reported in the literature in individuals affected with ALPL-related conditions. ClinVar contains an entry for this variant (Variation ID: 1355608). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003470959 | SCV004193875 | pathogenic | Adult hypophosphatasia | 2024-02-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001888085 | SCV005080903 | pathogenic | not provided | 2023-12-07 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD) |