ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001095774 SCV001251618 pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2020-01-09 criteria provided, single submitter clinical testing The SETX c.4853C>G (p.Ser1618Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Ser1618Ter variant is reported at a frequency of 0.000120 in the African population of the Genome Aggregation Database. Based on the predicted truncating nature of the variant, its rarity, identification in a homozygous state and application of the ACMG criteria, the p.Ser1618Ter variant is classified as pathogenic for autosomal recessive ataxia with oculomotor apraxia type 2.

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