ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.2274G>A (p.Trp758Ter)

dbSNP: rs1474848178
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001930371 SCV002183095 pathogenic not provided 2021-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp758*) in the SPTB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPTB are known to be pathogenic (PMID: 8844207, 26830532, 27292444). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SPTB-related conditions. For these reasons, this variant has been classified as Pathogenic.

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