ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) (rs1259615333)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691411 SCV000819189 pathogenic Spastic paraplegia 2019-05-07 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SACS gene (p.Asp968Valfs*13). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3,612 amino acids of the SACS protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of SACS-related conditions (PMID: 29858556). This variant disrupts the C-terminus of the SACS protein. Other variant(s) that disrupt this region (p.Arg3903*) have been determined to be pathogenic (PMID: 19892370, 21745802). 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.
Institute of Human Genetics,Cologne University RCV000664233 SCV000787799 pathogenic Charlevoix-Saguenay spastic ataxia 2018-04-25 no assertion criteria provided clinical testing
Natera, Inc. RCV000664233 SCV001453555 pathogenic Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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