ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7844del (p.Asn2615fs) (rs758572409)

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Total submissions: 2
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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
Invitae RCV001218622 SCV001390510 pathogenic Spastic paraplegia 2019-07-06 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs758572409, ExAC 0.002%). 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 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. For these reasons, this variant has been classified as Pathogenic.

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