ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) (rs1400601705)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664974 SCV000789020 pathogenic Charlevoix-Saguenay spastic ataxia 2016-12-27 criteria provided, single submitter clinical testing
Paris Brain Institute,Inserm - ICM RCV000664974 SCV001451190 pathogenic Charlevoix-Saguenay spastic ataxia criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001291595 SCV001480142 pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
Invitae RCV001387161 SCV001587720 pathogenic Spastic paraplegia 2020-09-05 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SACS gene (p.Ile3755Metfs*8). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 825 amino acids of the SACS protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with hereditary spastic paraplegia (PMID: 20876471, 29538656, 26288984, 22805644). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as p.I3755Mfs*7. ClinVar contains an entry for this variant (Variation ID: 550274). For these reasons, this variant has been classified as Pathogenic.

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