ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.201del (p.Leu67_Leu68insTer)

gnomAD frequency: 0.00002  dbSNP: rs763413730
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946569 SCV002232760 pathogenic Hereditary spastic paraplegia 7 2022-05-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu68*) 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 (rs763413730, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SPG7-related conditions. For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV001946569 SCV003807111 likely pathogenic Hereditary spastic paraplegia 7 2022-07-12 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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