ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs)

dbSNP: rs1555252086
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674844 SCV000800245 likely pathogenic Charlevoix-Saguenay spastic ataxia 2018-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001204188 SCV001375384 pathogenic Spastic paraplegia 2023-07-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SACS protein in which other variant(s) (p.Arg3903*) have been determined to be pathogenic (PMID: 19892370, 21745802). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 558554). This variant has not been reported in the literature in individuals affected with SACS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile1867Trpfs*29) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2713 amino acid(s) of the SACS protein.
Genome-Nilou Lab RCV000674844 SCV002027651 likely pathogenic Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000674844 SCV005055552 likely pathogenic Charlevoix-Saguenay spastic ataxia 2023-12-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004997135 SCV005620754 pathogenic not provided 2024-11-22 criteria provided, single submitter clinical testing This variant is not expected to cause loss of protein expression through nonsense-mediated decay. However, it disrupts a critical region of the protein, and therefore, is expected to severely disrupt function. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) This variant has been identified in at least one individual tested at Athena Diagnostics with clinical features associated with this gene.
Fulgent Genetics, Fulgent Genetics RCV000674844 SCV005634292 likely pathogenic Charlevoix-Saguenay spastic ataxia 2024-06-22 criteria provided, single submitter clinical testing

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