ClinVar Miner

Submissions for variant NM_006946.3(SPTBN2):c.1307T>C (p.Met436Thr) (rs1554986345)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520415 SCV000618564 likely pathogenic not provided 2017-10-03 criteria provided, single submitter clinical testing The M436T variant in the SPTBN2 gene has been reported previously as apparently de novo in a 9 year old male patient with infantile-onset spinocerebellar ataxia 5, who had clinical features that included cerebellar atrophy of the vermis, ataxia, intellectual disability, and attention deficit hyperactivity disorder (Kuperberg et al., 2016). This variant is not observed in large population cohorts (Lek et al., 2016). The M436T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In addition, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret M436T as a likely pathogenic variant.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001027673 SCV001190235 likely pathogenic Spinocerebellar ataxia type 5 2019-06-27 no assertion criteria provided clinical testing

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