ClinVar Miner

Submissions for variant NM_001351169.2(NT5C2):c.1099C>T (p.Arg367Ter)

gnomAD frequency: 0.00002  dbSNP: rs769873284
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035006 SCV001198311 pathogenic Hereditary spastic paraplegia 45 2019-03-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg367*) in the NT5C2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NT5C2-related conditions. Loss-of-function variants in NT5C2 are known to be pathogenic (PMID: 24482476). For these reasons, this variant has been classified as Pathogenic.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001035006 SCV001448918 likely pathogenic Hereditary spastic paraplegia 45 2019-05-20 criteria provided, single submitter clinical testing

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