ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2099A>G (p.Asp700Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337974 SCV004048449 uncertain significance Hereditary spastic paraplegia 7 criteria provided, single submitter clinical testing The missense c.2099A>G(p.Asp700Gly) variant in SPG7 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asp700Gly variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Asp at position 700 is changed to a Gly changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. The amino acid change p.Asp700Gly in SPG7 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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