ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.524T>C (p.Leu175Pro) (rs149797758)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197458 SCV000252317 likely pathogenic not provided 2014-07-03 criteria provided, single submitter clinical testing p.Leu175Pro (CTG>CCG): c.524 T>C in exon 4 of the SPG7 gene (NM_003119.2). The L175P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in OAPEO-MITOP panel(s).

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