ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.6373G>C (p.Gly2125Arg)

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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 RCV004771772 SCV005382510 uncertain significance Spinocerebellar ataxia type 5 2023-05-20 criteria provided, single submitter clinical testing The observed missense, splice region variant c.6373G>C(p.Gly2125Arg) in SPTBN2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant c.6373G>C has 0.001% allele frequency in gnomAD Exomes. The amino acid Glycine at position 2125 is changed to a Arginine changing protein sequence and it might alter its composition and physico-chemical properties.Multiple lines of computational evidence (Polyphen, SIFT and Mutation Taster) predict no damaging effect on protein structure and function for this variant. The amino acid change p.Gly2125Arg in SPTBN2 is predicted as conserved by GERP++. For these reasons, this variant has been classified as Uncertain Significance.

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