ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter)

dbSNP: rs1555250949
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667371 SCV000791805 likely pathogenic Charlevoix-Saguenay spastic ataxia 2017-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855479 SCV002147304 pathogenic Spastic paraplegia 2021-04-14 criteria provided, single submitter clinical testing 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.Tyr2922*) have been determined to be pathogenic (Invitae). 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. ClinVar contains an entry for this variant (Variation ID: 552152). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp2909*) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1671 amino acid(s) of the SACS protein.

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