ClinVar Miner

Submissions for variant NM_198150.3(ARSK):c.1251C>G (p.Tyr417Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust RCV002281190 SCV002102517 pathogenic Mucopolysaccharidosis, type 10 2022-03-07 no assertion criteria provided clinical testing The Tyr417* variant introduces a premature termination codon and targets ARSK-mRNA for nonsense-mediated decay. LoF-variants in ARSK are known to be pathogenic (PMID:34916232). The variant is absent from large population studies (gnomAD). PVS1, PM2

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