ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1643C>A (p.Ala548Asp) (rs863224220)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197084 SCV000252328 likely pathogenic not provided 2013-01-30 criteria provided, single submitter clinical testing p.Ala548Asp (GCC>GAC): c.1643 C>A in exon 12 of the SPG7 gene (NM_003119.2) An A548D missense change 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 amino acid change is non-conservative in that an uncharged Alanine residue is replaced by a negatively charged Aspartic Acid residue. This change occurs at a highly conserved position in the SPG7 protein, and multiple in-silico analysis programs predict that A548D is damaging to the SPG7 protein. Therefore, A548D is a strong candidate for a disease-causing 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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