ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.220G>A (p.Gly74Arg)

gnomAD frequency: 0.00022  dbSNP: rs114854791
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198775 SCV000252326 uncertain significance not provided 2014-04-25 criteria provided, single submitter clinical testing p.Gly74Arg (GGG>AGG): c.220 G>A in exon 2 of the SPG7 gene (NM_003119.2). A variant of unknown significance has been identified in the SPG7 gene. The G74R variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The G74R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is mostly conserved across species; although, Arginine is present at this position in another species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Fulgent Genetics, Fulgent Genetics RCV000765319 SCV000896578 uncertain significance Hereditary spastic paraplegia 7 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765319 SCV001484517 likely benign Hereditary spastic paraplegia 7 2023-04-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847887 SCV002105875 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000198775 SCV002770736 uncertain significance not provided 2022-04-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003993885 SCV004813964 uncertain significance not specified 2024-02-28 criteria provided, single submitter clinical testing Variant summary: SPG7 c.220G>A (p.Gly74Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0001 in 251020 control chromosomes. To our knowledge, no occurrence of c.220G>A in individuals affected with Hereditary Spastic Paraplegia 7 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 215213). Based on the evidence outlined above, the variant was classified as uncertain significance.

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