ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6125G>A (p.Cys2042Tyr)

dbSNP: rs2137612456
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001535820 SCV001751530 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-07-14 criteria provided, single submitter clinical testing The variant was detected in a patient presenting with a complex neuromuscular phenotype (differential diagnoses: SMA, ALS) . The variant is absent from population databases and it has not been reported in the literature. The patient additionally carries a likely pathogenic variant in the SACS gene. Segregation analyses have not yet been performed. Bioinformatic prediction tools point to pathogenicity. We have classified it as a "variant of unknown significance".

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