ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.542C>A (p.Ala181Asp)

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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 RCV004818863 SCV005438780 uncertain significance Spinocerebellar ataxia type 5 2023-07-22 criteria provided, single submitter clinical testing The missense c.542C>Ap.Ala181Asp variant in the SPTBN2 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 181 is changed to a Aspartic acid changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence Polyphen - Probably damaging, SIFT – Damaging and MutationTaster - Disease causing predict a damaging effect on protein structure and function for this variant.The amino acid Alanine in SPTBN2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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