Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674696 | SCV000800082 | likely pathogenic | Infantile hypophosphatasia | 2018-05-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001382224 | SCV001580896 | pathogenic | not provided | 2023-07-19 | 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: 558430). This premature translational stop signal has been observed in individual(s) with hypophastasia (PMID: 11855933). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser131Thrfs*34) 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). |
Gene |
RCV001382224 | SCV004168864 | pathogenic | not provided | 2023-11-09 | criteria provided, single submitter | clinical testing | 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); This variant is associated with the following publications: (PMID: 11855933) |