ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs)

dbSNP: rs748255454
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528473 SCV000640075 pathogenic Hereditary spastic paraplegia 7 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu706Glnfs*30) in the SPG7 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 90 amino acid(s) of the SPG7 protein. This variant is present in population databases (rs748255454, gnomAD 0.0009%). This premature translational stop signal has been observed in individuals with spastic paraplegia (PMID: 22964162). ClinVar contains an entry for this variant (Variation ID: 465175). For these reasons, this variant has been classified as Pathogenic.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000528473 SCV000745331 pathogenic Hereditary spastic paraplegia 7 2016-03-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000996413 SCV001151101 pathogenic not provided 2022-03-01 criteria provided, single submitter clinical testing SPG7: PVS1, PM2
Paris Brain Institute, Inserm - ICM RCV000528473 SCV001451067 pathogenic Hereditary spastic paraplegia 7 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000528473 SCV002579493 pathogenic Hereditary spastic paraplegia 7 2021-11-10 criteria provided, single submitter clinical testing
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research RCV000528473 SCV005044629 pathogenic Hereditary spastic paraplegia 7 2022-01-01 criteria provided, single submitter research
GeneDx RCV000996413 SCV005201863 pathogenic not provided 2023-11-03 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 90 amino acids are replaced with 29 different amino acids, and other similar variants have been reported in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22571692, 22964162, 30588391)

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