ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) (rs151249432)

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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 RCV000197553 SCV000780549 likely pathogenic not provided 2018-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000197553 SCV000252340 pathogenic not provided 2014-10-07 criteria provided, single submitter clinical testing p.Ser576Trp (TCG>TGG): c.1727 C>G in exon 13 of the SPG7 gene (NM_003119.2) The S576W missense mutation in the SPG7 gene has been reported previously in association with spastic paraplegia in an individual who also heterozygous for another mutation in SPG7 (Kumar et al., 2013). The variant is found in MITONUC-MITOP panel(s).

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