Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001731812 | SCV001983479 | pathogenic | Hypophosphatasia | 2021-09-04 | criteria provided, single submitter | clinical testing | Variant summary: ALPL c.18delA (p.Val7TyrfsX12) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251486 control chromosomes. c.18delA has been reported in the literature as a compound heterozygous genotype in at-least two individuals affected with Hypophosphatasia (example, Cui_2012, Zhu_2020). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Baylor Genetics | RCV003465354 | SCV004192583 | pathogenic | Adult hypophosphatasia | 2024-02-29 | criteria provided, single submitter | clinical testing | |
| Children's Hospital of Soochow University, |
RCV000678683 | SCV000693855 | pathogenic | Infantile hypophosphatasia | 2018-02-26 | no assertion criteria provided | clinical testing |