ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.220G>A (p.Gly74Arg) (rs114854791)

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Total submissions: 2
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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

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