ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)

dbSNP: rs1554986337
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658607 SCV000780385 likely pathogenic not provided 2018-01-01 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677650 SCV000803781 likely pathogenic Spinocerebellar ataxia type 5 2017-10-11 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000658607 SCV001762053 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
GeneDx RCV000658607 SCV002104365 pathogenic not provided 2022-03-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31066025, 31617442)
3billion RCV000677650 SCV002572839 pathogenic Spinocerebellar ataxia type 5 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000546676). The variant has been previously reported as de novo in a similarly affected individual (PMID: 31066025). Different missense changes at the same codon (p.Arg437Gly, p.Arg437Trp) have been reported to be associated with SPTBN2-related disorder (ClinVar ID: VCV000928964 / PMID: 26633542 , 31066025). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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