ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.466C>T (p.Arg156Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003391174 SCV004101786 likely pathogenic Neuronopathy, distal hereditary motor, autosomal dominant 11; Developmental delay with or without epilepsy 2023-11-14 criteria provided, single submitter clinical testing The variant c.466C>T (p.(Arg156*)) in exon 4 of the SPTAN1 gene is not found in the gnomAD database and changes the protein sequence starting at position 156 and interrupts the reading frame prematurely. This variant affects a moderately conserved nucleotide within a protein domain. ACMG criteria used for classification: PVS1_vstrg, PM2_supp.

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