Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409218 | SCV000486885 | likely pathogenic | Pyknodysostosis | 2016-08-31 | criteria provided, single submitter | clinical testing | |
Kasturba Medical College, |
RCV000409218 | SCV002053986 | pathogenic | Pyknodysostosis | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV000409218 | SCV004049725 | likely pathogenic | Pyknodysostosis | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Human Genetics Unit, |
RCV000409218 | SCV004218417 | pathogenic | Pyknodysostosis | 2023-12-28 | criteria provided, single submitter | clinical testing | This variant was observed in compound heterozygosity with variant (NM_000396.3:c.263A>C) |
Invitae | RCV003558363 | SCV004291999 | pathogenic | not provided | 2023-08-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371328). This premature translational stop signal has been observed in individual(s) with pycnodysostosis (PMID: 10074491, 29441215). This variant is present in population databases (rs202040269, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln190*) in the CTSK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTSK are known to be pathogenic (PMID: 12125807, 21569238). |