ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter)

gnomAD frequency: 0.00001  dbSNP: rs748555510
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196592 SCV000253882 pathogenic Hereditary spastic paraplegia 7 2024-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg470*) in the SPG7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPG7 are known to be pathogenic (PMID: 21623769, 22964162). This variant is present in population databases (rs748555510, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with SPG7-related conditions (PMID: 29482223). ClinVar contains an entry for this variant (Variation ID: 216088). For these reasons, this variant has been classified as Pathogenic.
MGZ Medical Genetics Center RCV000196592 SCV002581900 likely pathogenic Hereditary spastic paraplegia 7 2021-07-06 criteria provided, single submitter clinical testing

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