Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599365 | SCV000710544 | likely pathogenic | not provided | 2018-02-06 | criteria provided, single submitter | clinical testing | The c.1171dupC variant in the ALPL gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1171dupC variant causes a frameshift starting with codon Arginine 391, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Arg391ProfsX14. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1171dupC variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.1171dupC as a likely pathogenic variant. |
Invitae | RCV000599365 | SCV001589791 | pathogenic | not provided | 2023-10-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg391Profs*14) 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 present in population databases (rs751404811, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with ALPL-related conditions (PMID: 33191482). ClinVar contains an entry for this variant (Variation ID: 504232). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003459476 | SCV004195063 | pathogenic | Adult hypophosphatasia | 2023-06-19 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000984144 | SCV001132120 | likely pathogenic | Infantile hypophosphatasia | 2016-09-14 | no assertion criteria provided | clinical testing |