ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11092C>T (p.Gln3698Ter)

dbSNP: rs1883571494
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV002790005 SCV003761330 likely pathogenic Charlevoix-Saguenay spastic ataxia 2023-01-25 criteria provided, single submitter curation The homozygous p.Gln3698Ter variant in SACS was identified by our study in three siblings with spastic ataxia. The p.Gln3698Ter variant in SACS has not been previously reported in individuals with spastic ataxia of the Charlevoix-Saguenay type. This variant was absent from large population studies. This nonsense variant leads to a premature termination codon at position 3698. This alteration occurs within the last exon and is more likely to escape nonsense mediated decay (NMD) and result in a truncated protein. Loss of function of the SACS gene is an established disease mechanism of autosomal recessive spastic ataxia of the Charlevoix-Saguenay type. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic for autosomal recessive spastic ataxia of the Charlevoix-Saguenay type. ACMG/AMP Criteria applied: PVS1_Strong, PM2_Supporting, PM3_Supporting (Richards 2015).
Fulgent Genetics, Fulgent Genetics RCV002790005 SCV005632158 likely pathogenic Charlevoix-Saguenay spastic ataxia 2024-05-06 criteria provided, single submitter clinical testing

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