ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter)

dbSNP: rs370032584
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001280740 SCV001468058 likely pathogenic not provided 2020-10-16 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001280740 SCV001480131 pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
Invitae RCV001385106 SCV001584851 pathogenic Spastic paraplegia 2022-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 992316). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary spastic paraparesis (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg681*) in the KDM5C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KDM5C are known to be pathogenic (PMID: 15586325, 18697827).
GeneDx RCV001280740 SCV001794747 pathogenic not provided 2023-10-02 criteria provided, single submitter clinical testing Identified as a de novo variant in a female with autism in published literature; however, de novo variants in other genes were also identified in this individual (Zhou et al., 2022); Reported in a female from a large cohort of individuals with neurodevelopmental conditions in published literature; however, additional clinical information was not provided (Levy et al., 2022); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35982159, 35904121)

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