ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs)

gnomAD frequency: 0.00001  dbSNP: rs773182375
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531534 SCV000629480 pathogenic Spastic paraplegia 2023-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2402Argfs*6) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2178 amino acid(s) of the SACS protein. This variant is present in population databases (rs773182375, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SACS-related conditions. ClinVar contains an entry for this variant (Variation ID: 458274). 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. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001835847 SCV002812886 pathogenic Charlevoix-Saguenay spastic ataxia 2022-03-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV001835847 SCV004209916 pathogenic Charlevoix-Saguenay spastic ataxia 2023-09-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835847 SCV002086222 pathogenic Charlevoix-Saguenay spastic ataxia 2020-08-19 no assertion criteria provided clinical testing

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