ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8793dup (p.Arg2932fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233437 SCV001406030 pathogenic Spastic paraplegia 2020-09-15 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SACS gene (p.Arg2932Thrfs*7). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1648 amino acids of the SACS protein. This variant is present in population databases (rs767871841, ExAC 0.01%). This variant has not been reported in the literature in individuals with SACS-related conditions. This variant disrupts the C-terminus of the SACS protein. Other variant(s) that disrupt this region (p.Ile2949Phefs*4 and p.Arg3903*) have been determined to be pathogenic (PMID: 11788093, 10655055, 22307627, 19892370, 21745802). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics Inc RCV001288377 SCV001475443 pathogenic not provided 2020-06-10 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and found in general population data at a frequency that is consistent with pathogenicity.

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