ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.214G>T (p.Glu72Ter)

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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. RCV002309321 SCV002603132 likely pathogenic Pyknodysostosis 2022-03-30 criteria provided, single submitter clinical testing NM_000396.3(CTSK):c.214G>T(E72*) 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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