ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.416_432del (p.Arg139fs)

dbSNP: rs1085307874
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489060 SCV000577549 pathogenic not provided 2017-03-20 criteria provided, single submitter clinical testing The c.416_432del17 pathogenic variant in the SPG7 gene causes a frameshift starting with codon Arginine 139, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 44 of the new reading frame, denoted p.Arg139LeufsX44. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.416_432del17 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although this pathogenic variant has not been previously reported to our knowledge, other truncating variants in the SPG7 gene have been reported in association with spastic paraplegia (Stenson et al., 2014). Therefore, c.416_432del17 is considered a pathogenic variant.

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