ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.6953C>T (p.Ser2318Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003856523 SCV004697063 likely benign not provided 2022-11-28 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004759329 SCV005373635 uncertain significance Spinocerebellar ataxia type 5 2023-05-20 criteria provided, single submitter clinical testing The missense c.6953C>T (p.Ser2318Leu) 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 reported with the allele frequency (0.001%) in the gnomAD Exomes. The amino acid Serine at position 2318 is changed to a Leucine changing protein sequence and it might alter its composition and physico-chemical properties. Computational evidence (Polyphen - Probably damaging, SIFT - Tolerated and MutationTaster - Disease causing) predicts conflicting evidence on protein structure and function for this variant. The amino acid change p.Ser2318Leu 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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