ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs) (rs748255454)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528473 SCV000640075 pathogenic Spastic paraplegia 7 2017-09-13 criteria provided, single submitter clinical testing This sequence change deletes 17 nucleotide from exon 16 of the SPG7 mRNA (c.2115_2131del17), causing a frameshift at codon 706. This creates a premature translational stop signal in the last exon of the SPG7 mRNA (p.Leu706Glnfs*30). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 21 amino acids of the SPG7 protein. The frequency data for this variant (rs748255454) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has been reported in the homozygous or compound heterozygous state in several individuals and a family affected with spastic paraplegia (PMID: 22964162). For these reasons, this variant has been classified as Pathogenic.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000528473 SCV000745331 pathogenic Spastic paraplegia 7 2016-03-17 criteria provided, single submitter clinical testing

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