ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1777A>T (p.Lys593Ter)

dbSNP: rs1463225651
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001391529 SCV001451063 pathogenic Hereditary spastic paraplegia 7 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001391529 SCV005642517 pathogenic Hereditary spastic paraplegia 7 2024-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001391529 SCV005767699 pathogenic Hereditary spastic paraplegia 7 2024-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys593*) 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 (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 22571692). ClinVar contains an entry for this variant (Variation ID: 989131). For these reasons, this variant has been classified as Pathogenic.

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