ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) (rs140385286)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578726 SCV000680748 pathogenic not provided 2020-05-14 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23443022, 28492532)
Invitae RCV000642546 SCV000764232 pathogenic Spastic paraplegia 11, autosomal recessive 2020-05-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp362*) in the SPG11 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs140385286, ExAC 0.002%). This variant has been reported in combination with a second pathogenic variant in a family affected with hereditary spastic paraplegia type 11 (PMID: 23443022). ClinVar contains an entry for this variant (Variation ID: 488833). Loss-of-function variants in SPG11 are known to be pathogenic (PMID: 19105190, 20110243, 22154821, 26556829). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000763352 SCV000894042 pathogenic Amyotrophic lateral sclerosis type 5; Spastic paraplegia 11, autosomal recessive; Charcot-Marie-Tooth disease, axonal type 2X 2018-10-31 criteria provided, single submitter clinical testing
Genomics England Pilot Project,Genomics England RCV000642546 SCV001760347 likely pathogenic Spastic paraplegia 11, autosomal recessive no assertion criteria provided clinical testing

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