ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.1357C>T (p.Arg453Ter)

dbSNP: rs2079784643
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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 RCV002007403 SCV002232414 pathogenic not provided 2022-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg453*) 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 is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with UNC80-related conditions. ClinVar contains an entry for this variant (Variation ID: 1451796). For these reasons, this variant has been classified as Pathogenic.

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