ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)

gnomAD frequency: 0.00001  dbSNP: rs1571122183
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Total submissions: 4
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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, Tarbiat Modares University 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, Tarbiat Modares University 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

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