ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.1951A>G (p.Arg651Gly)

dbSNP: rs764254189
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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 RCV000415684 SCV000282231 likely pathogenic Spastic ataxia 5 2016-01-01 no assertion criteria provided clinical testing Variant c.1951A>G(p.R651G) was found to be pathogenic by Polyphen2 and SIFT software.

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