ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr)

gnomAD frequency: 0.00001  dbSNP: rs2058661391
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647144 SCV001519208 likely pathogenic Hereditary spastic paraplegia 7 2021-07-12 criteria provided, single submitter research
MGZ Medical Genetics Center RCV001647144 SCV002581901 uncertain significance Hereditary spastic paraplegia 7 2021-07-06 criteria provided, single submitter clinical testing
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research RCV001647144 SCV005044569 likely pathogenic Hereditary spastic paraplegia 7 2022-01-01 criteria provided, single submitter research

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