ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter)

dbSNP: rs1289499829
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity Omics RCV001283842 SCV002020824 pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2020-03-20 criteria provided, single submitter clinical testing
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001283842 SCV002073806 pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 criteria provided, single submitter clinical testing
Invitae RCV001871648 SCV002235952 pathogenic not provided 2022-07-11 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg137*) in the UNC80 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in UNC80 are known to be pathogenic (PMID: 26545877, 26708751, 26708753). This variant has not been reported in the literature in individuals affected with UNC80-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 993028).
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283842 SCV001469273 likely pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2020-08-07 no assertion criteria provided clinical testing

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