ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer)

dbSNP: rs1555251421
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666291 SCV000790558 likely pathogenic Charlevoix-Saguenay spastic ataxia 2017-03-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000666291 SCV004101332 likely pathogenic Charlevoix-Saguenay spastic ataxia 2023-07-29 criteria provided, single submitter clinical testing The SACS c.7436_7443dupCCACTGTA (p.Lys2482ProfsTer3) variant causes a shift in the protein reading frame that is predicted to result in premature termination of the protein. This variant occurs in the last exon of the gene, and the resulting transcript may escape nonsense-mediated mRNA decay. To our knowledge, this variant has not been reported in the peer-reviewed literature. However, our laboratory has previously observed this variant in a homozygous state in two siblings with a phenotype consistent with Charlevoix-Saguenay spastic ataxia. The p.Lys2482ProfsTer3 variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. This variant was identified in a homozygous state. Based on the available evidence, the c.7436_7443dupCCACTGTA (p.Lys2482ProfsTer3) variant is classified as likely pathogenic for Charlevoix-Saguenay spastic ataxia.

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