ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.1796-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003120310 SCV003799226 pathogenic not provided 2022-05-10 criteria provided, single submitter clinical testing The SPTB c.1796-1G>C variant is reported in the literature in one individual affected with hereditary spheroctyosis (Tole 2020). This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant disrupts the canonical splice acceptor site of intron 12, which is likely to negatively impact gene function. Based on available information, this variant is considered to be pathogenic.

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