ClinVar Miner

Submissions for variant NM_032108.4(SEMA6B):c.17C>T (p.Ala6Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004819028 SCV005439080 uncertain significance Epilepsy, progressive myoclonic, 11 2023-06-22 criteria provided, single submitter clinical testing The missense variant c.17C>T p.Ala6Val in the SEMA6B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Alanine at position 6 is changed to a Valine changing protein sequence and it might alter its composition and physico-chemical properties. Computational evidence Polyphen, SIFT and MutationTaster predicts conflicting evidence on protein structure and function for this variant. The amino acid change p.Ala6Val in SEMA6B is predicted as conserved by PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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