Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669326 | SCV000794070 | uncertain significance | Infantile hypophosphatasia | 2017-09-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001300265 | SCV001489402 | pathogenic | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 106 of the ALPL protein (p.Gln106His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hypophosphatasia (PMID: 20049532, 28401263; Invitae). ClinVar contains an entry for this variant (Variation ID: 553805). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ALPL protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
Molecular Diagnostics Laboratory, |
RCV001730705 | SCV001981522 | likely pathogenic | Hypophosphatasia | 2021-08-16 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV004568525 | SCV005060822 | likely pathogenic | Adult hypophosphatasia | 2024-03-03 | criteria provided, single submitter | clinical testing |