ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.2807T>C (p.Leu936Pro)

dbSNP: rs2135418994
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663517 SCV001880347 uncertain significance not provided 2021-05-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004968231 SCV005508637 likely pathogenic Inborn genetic diseases 2024-10-16 criteria provided, single submitter clinical testing The c.2807T>C (p.L936P) alteration is located in exon 15 (coding exon 14) of the SPTBN2 gene. This alteration results from a T to C substitution at nucleotide position 2807, causing the leucine (L) at amino acid position 936 to be replaced by a proline (P). for autosomal dominant SPTBN2-related spinocerebellar ataxia; however, its clinical significance for autosomal recessive SPTBN2-related spinocerebellar ataxia is uncertain. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic.

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