ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2888C>G (p.Ser963Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002470624 SCV002768856 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-08-28 criteria provided, single submitter clinical testing A heterozygous missense variant was identified, NM_014363.5(SACS):c.2888C>G in exon 10 of 10 of the SACS gene. This substitution is predicted to create a major amino acid change from serine to cysteine at position 963 of the protein, NP_055178.3(SACS):p.(Ser963Cys). The serine at this position has very high conservation (100 vertebrates, UCSC), but is not situated in a known functional domain. In silico software predicts this variant to be disease causing (Polyphen, SIFT, CADD, Mutation Taster). The variant is not present in the gnomAD population database. The variant has not been previously reported in a clinical testing setting. Based on information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS).

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