ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.60C>T (p.Cys20=)

gnomAD frequency: 0.00001  dbSNP: rs932552006
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001109790 SCV001267160 uncertain significance Charlevoix-Saguenay spastic ataxia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001462819 SCV001666746 likely benign Spastic paraplegia 2023-12-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001109790 SCV002026701 likely benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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