ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys) (rs752257333)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200130 SCV000252341 likely pathogenic not provided 2015-01-29 criteria provided, single submitter clinical testing p.Glu702Lys (GAA>AAA): c.2104 G>A in exon 16 of the SPG7 gene (NM_003119.2) A E702K variant that is likely pathogenic was identified in the SPG7 gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The E702K 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 conserved across species and most in silico analysis predict this variant is probably damaging to the protein structure/function. Missense mutations in nearby residues (S692T, G694D, Q697P) have been reported in association with spastic paraplegia, supporting the functional importance of this region of the protein. 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 MITONUC-MITOP panel(s).

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