ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2439_2440del (p.Val815fs) (rs775059063)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169208 SCV000220462 likely pathogenic Charlevoix-Saguenay spastic ataxia 2014-06-27 criteria provided, single submitter literature only
Athena Diagnostics Inc RCV000992783 SCV001145324 pathogenic not provided 2019-07-08 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 symptomatic patient, and found in general population data that is consistent with pathogenicity.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000992783 SCV001448098 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV001382654 SCV001581541 pathogenic Spastic paraplegia 2020-05-03 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SACS gene (p.Val815Glyfs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3765 amino acids of the SACS protein. This variant is present in population databases (rs775059063, ExAC 0.01%). This variant has been observed in individual(s) with spastic ataxia of Charlevoix-Saguenay (PMID: 23043354). ClinVar contains an entry for this variant (Variation ID: 188856). This variant disrupts the C-terminus of the SACS protein. Other variant(s) that disrupt this region (p.Arg3903* and p.Leu4303*) have been determined to be pathogenic (PMID: 19892370, 21745802, Invitae). 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.
Medical Genetics Laboratory,Tarbiat Modares University RCV000169208 SCV001622768 pathogenic Charlevoix-Saguenay spastic ataxia 2020-03-01 criteria provided, single submitter clinical testing

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