ClinVar Miner

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

dbSNP: rs1259615333
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000691411 SCV000819189 pathogenic Spastic paraplegia 2023-05-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SACS protein in which other variant(s) (p.Arg3903*) have been determined to be pathogenic (PMID: 19892370, 21745802). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 549687). This premature translational stop signal has been observed in individual(s) with clinical features of SACS-related conditions (PMID: 29858556). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp968Valfs*13) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3612 amino acid(s) of the SACS protein.
Revvity Omics, Revvity RCV000664233 SCV002019982 pathogenic Charlevoix-Saguenay spastic ataxia 2021-01-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000664233 SCV004209954 pathogenic Charlevoix-Saguenay spastic ataxia 2024-03-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004792355 SCV005414140 pathogenic not provided 2024-08-19 criteria provided, single submitter clinical testing PM2, PM3_supporting, PVS1_strong
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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