ClinVar Miner

Submissions for variant NM_017613.4(DONSON):c.484C>T (p.Arg162Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005119844 SCV005748150 pathogenic not provided 2024-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg162*) in the DONSON gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DONSON are known to be pathogenic (PMID: 28191891, 28630177). This variant is present in population databases (rs753740715, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DONSON-related conditions. For these reasons, this variant has been classified as Pathogenic.

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