ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter)

dbSNP: rs1156566314
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549870 SCV000629450 pathogenic Spastic paraplegia 2020-06-21 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SACS gene (p.Glu3647*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 933 amino acids of the SACS protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the SACS protein. Other variant(s) that disrupt this region (p.Arg3903*) have been determined to be pathogenic (PMID: 19892370, 21745802). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with SACS-related conditions. This variant is not present in population databases (ExAC no frequency).
Athena Diagnostics RCV003482277 SCV004229936 likely pathogenic not provided 2023-05-16 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org).
Baylor Genetics RCV004568750 SCV005055521 likely pathogenic Charlevoix-Saguenay spastic ataxia 2024-03-04 criteria provided, single submitter clinical testing

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