ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.151dup (p.Glu51fs)

dbSNP: rs2525178790
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306743 SCV002602773 likely pathogenic Pyknodysostosis 2022-01-31 criteria provided, single submitter clinical testing NM_000396.3(CTSK):c.151dupG(E51Gfs*11) is expected to be pathogenic in the context of pycnodysostosis. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in CTSK, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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