ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)

gnomAD frequency: 0.00001  dbSNP: rs879253797
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics of motion laboratory, Montreal Neurological Institute RCV000236780 SCV000245720 pathogenic Hereditary spastic paraplegia 7 criteria provided, single submitter case-control
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847905 SCV002105878 likely pathogenic Hereditary spastic paraplegia 2019-03-01 criteria provided, single submitter clinical testing
Mendelics RCV000236780 SCV002519811 pathogenic Hereditary spastic paraplegia 7 2022-05-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000236780 SCV003922887 pathogenic Hereditary spastic paraplegia 7 2023-03-15 criteria provided, single submitter clinical testing Variant summary: SPG7 c.2249C>T (p.Pro750Leu) results in a non-conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251330 control chromosomes (gnomAD). c.2249C>T has been reported in the literature in compound heterozygous individuals affected with Hereditary Spastic Paraplegia 7 (Klebe_2012), spastic ataxia (Choquet_2015), and ataxia (Coutelier_2017). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research RCV000236780 SCV005044613 likely pathogenic Hereditary spastic paraplegia 7 2022-01-01 criteria provided, single submitter research

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