ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2699_2700del (p.Lys900fs)

dbSNP: rs1167474602
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667508 SCV000791971 likely pathogenic Charlevoix-Saguenay spastic ataxia 2017-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001385440 SCV001585277 pathogenic Spastic paraplegia 2021-07-28 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SACS gene (p.Lys900Argfs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3680 amino acids of the SACS protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SACS-related conditions. ClinVar contains an entry for this variant (Variation ID: 552280). This variant disrupts the C-terminus of the SACS protein. Other variant(s) that disrupt this region (p.Leu4303*) have been determined to be pathogenic (PMID: 23497566, 26288984, 16944349). 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.
Genome-Nilou Lab RCV000667508 SCV002027664 likely pathogenic Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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