ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)

dbSNP: rs1554986345
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520415 SCV000618564 likely pathogenic not provided 2021-05-06 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27572814, 33797620, 33801522)
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001027673 SCV001190235 likely pathogenic Spinocerebellar ataxia type 5 2019-06-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000520415 SCV002064379 likely pathogenic not provided 2022-01-12 criteria provided, single submitter clinical testing DNA sequence analysis of the SPTBN2 gene demonstrated a sequence change, c.1307T>C, in exon 11 that results in an amino acid change, p.Met436Thr. The p.Met436Thr change affects a highly conserved amino acid residue located in a domain of the SPTBN2 protein that is known to be functional. The p.Met436Thr substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). This particular amino acid change has been described in the de novo state in an individual with a diagnosis of infantile onset spinocerebellar ataxia 5 (PMID: 27572814). This sequence change has not been described in the population databases such as ExAC and gnomAD. This sequence change is the likely cause of this individual's phenotype, however functional studies have not been performed to prove this conclusively.

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