ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.3G>A (p.Met1Ile)

dbSNP: rs778368118
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666918 SCV000791291 likely pathogenic Pyknodysostosis 2017-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530701 SCV003523508 pathogenic not provided 2023-05-30 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the CTSK mRNA. The next in-frame methionine is located at codon 75. 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.Arg46Trp) have been determined to be pathogenic (PMID: 17206399, 24269275, 27092432). 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: 551777). Disruption of the initiator codon has been observed in individual(s) with pycnodysostosis (PMID: 24767306). This variant is present in population databases (rs778368118, gnomAD 0.003%).
Genome-Nilou Lab RCV000666918 SCV004049737 likely pathogenic Pyknodysostosis 2023-04-11 criteria provided, single submitter clinical testing

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