ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter)

dbSNP: rs1057517123
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409320 SCV000486782 likely pathogenic Charlevoix-Saguenay spastic ataxia 2016-08-08 criteria provided, single submitter clinical testing
Invitae RCV001218630 SCV001390520 likely pathogenic Spastic paraplegia 2022-12-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 371248). 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.Tyr4428*) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 152 amino acid(s) of the SACS protein. This variant disrupts the p.Asn4549 amino acid residue in SACS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15156359, 21507954). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Revvity Omics, Revvity RCV000409320 SCV002019115 likely pathogenic Charlevoix-Saguenay spastic ataxia 2021-04-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409320 SCV004210038 likely pathogenic Charlevoix-Saguenay spastic ataxia 2023-01-06 criteria provided, single submitter clinical testing

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