ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)

gnomAD frequency: 0.00001  dbSNP: rs1329063851
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001391527 SCV001451060 pathogenic Hereditary spastic paraplegia 7 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819969 SCV002064533 likely pathogenic not provided 2021-06-18 criteria provided, single submitter clinical testing DNA sequence analysis of the SPG7 gene demonstrated a sequence change,c.1730G>A, in exon 13 that results in an amino acid change, p.Gly577Asp. This sequence change is absent in the gnomAD population database. The p.Gly577Asp change has been previously described in the compound heterozygous state in one individual with spastic paraplegia (PMID: 21623769). Another different sequence change affecting the same amino acid (p.Gly577Ser) has also been reported in the compound heterozygous state in one individual with spastic paraplegia (PMID: 14985266). The p.Gly577Asp change affects a highly conserved amino acid residue located in the zinc binding motif of the SPG7 protein. The p.Gly577Asp substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Overall, this evidence suggests p.Gly577Asp is likely pathogenic, however functional studies have not been performed to prove this conclusively.
Revvity Omics, Revvity RCV001391527 SCV003820053 uncertain significance Hereditary spastic paraplegia 7 2021-01-14 criteria provided, single submitter clinical testing

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