Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002536163 | SCV002957427 | pathogenic | not provided | 2022-01-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CTSK protein in which other variant(s) (p.Arg312*) have been determined to be pathogenic (PMID: 24767306; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 684727). This premature translational stop signal has been observed in individual(s) with pycnodysostosis (PMID: 31944631). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp302*) in the CTSK gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 28 amino acid(s) of the CTSK protein. |
Baylor Genetics | RCV003467528 | SCV004215241 | pathogenic | Pyknodysostosis | 2023-09-20 | criteria provided, single submitter | clinical testing | |
Human Genetics Department, |
RCV001002750 | SCV000965583 | pathogenic | Skeletal dysplasia; Short stature; Short phalanx of finger; Scoliosis; Macrocephaly; Delayed cranial suture closure; Nail dysplasia; Increased susceptibility to fractures | no assertion criteria provided | clinical testing | ||
Human Genetics Department, |
RCV001007653 | SCV000992362 | uncertain significance | Skeletal dysplasia; Short stature; Dental crowding; Abnormal skull morphology; Abnormality of the fontanelles or cranial sutures; Macrocephaly; Periodontitis; Delayed closure of the anterior fontanelle; Nail dysplasia; Increased susceptibility to fractures; Thoracic scoliosis; Obtuse angle of mandible; Enamel hypoplasia; Short finger; Midface retrusion | no assertion criteria provided | clinical testing |