ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.422G>A (p.Gly141Glu)

dbSNP: rs755563264
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Neurology and Neurophysiology, Children's University Hospital RCV000735807 SCV000778823 uncertain significance Hereditary spastic paraplegia 77 2018-06-27 no assertion criteria provided case-control This variant along with a deletion of exon 6 on the other chromosome copy results in a phenotype of slowly progressive diplegia, dysphonia and tremor. Similar to Spastic Paraplegia 77 but with a more progressive phenotype.

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