ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7844del (p.Asn2615fs)

dbSNP: rs758572409
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409571 SCV000487080 likely pathogenic Charlevoix-Saguenay spastic ataxia 2016-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001218622 SCV001390510 pathogenic Spastic paraplegia 2019-07-06 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. A different truncation (p.Arg3903*) that lies downstream of this variant has been determined to be pathogenic (PMID: 19892370, 21745802). This suggests that deletion of this region of the SACS protein is 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: 371485). This variant is present in population databases (rs758572409, ExAC 0.002%). This sequence change results in a premature translational stop signal in the SACS gene (p.Asn2615Ilefs*10). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1,965 amino acids of the SACS protein.
Genome-Nilou Lab RCV000409571 SCV002027637 likely pathogenic Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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