ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.578G>A (p.Arg193Gln)

gnomAD frequency: 0.00002  dbSNP: rs781168584
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625814 SCV000746372 uncertain significance not specified 2020-05-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499016 SCV002789604 uncertain significance Pyknodysostosis 2022-05-23 criteria provided, single submitter clinical testing
Invitae RCV002533146 SCV003476773 uncertain significance not provided 2021-10-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 193 of the CTSK protein (p.Arg193Gln). This variant is present in population databases (rs781168584, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CTSK-related conditions. ClinVar contains an entry for this variant (Variation ID: 522671). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CTSK protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV002499016 SCV004049723 uncertain significance Pyknodysostosis 2023-04-11 criteria provided, single submitter clinical testing

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