ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13588G>T (p.Gly4530Cys)

dbSNP: rs2137547970
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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 RCV001526398 SCV001712122 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-06-09 criteria provided, single submitter clinical testing The variant was detected in homozygosity in a patient with clinical suspicion of CMT. The patient's phenotype is within the ARSACS spectrum (Baets, J., 2010). Segregation analyses to exclude pseudo-homozygosity could not be performed . No other pathogenic variants were detected in relevant genes. The variant is absent from controls and it has not yet been reported in clinical databases. Formally, it is a variant of uncertain significance.

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