ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.631G>A (p.Val211Ile) (rs143003434)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000678674 SCV000747732 likely pathogenic Spastic paraplegia 4, autosomal dominant 2018-08-16 no assertion criteria provided clinical testing The observed variant c.631G>A is not reported in 1000 Genomes database and has a minor allele frequency of 0.00005% in ExAC database. The in silico prediction of the variant is disease causing by MutationTaster2 and possibly damaging by polyphen2.

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