ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1586C>T (p.Ala529Val) (rs748600162)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000199550 SCV000892196 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000199550 SCV000252321 likely pathogenic not provided 2013-02-15 criteria provided, single submitter clinical testing p.Ala529Val (GCG>GTG): c.1586 C>T in exon 12 of the SPG7 gene (NM_003119.2) A A529V 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 A529V amino acid change is conservative in that both Alanine and Valine are uncharged, non-polar amnio acids. However, this change occurs at a highly conserved position in the SPG7 protein, and multiple in-silico analysis programs predict that A529V is damaging to the SPG7 protein. Therefore, A529V 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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