ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.528G>A (p.Trp176Ter)

gnomAD frequency: 0.00001  dbSNP: rs762980642
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241843 SCV001414892 pathogenic not provided 2021-03-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp176*) in the BCS1L gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs762980642, ExAC 0.002%). This variant has not been reported in the literature in individuals with BCS1L-related conditions. Loss-of-function variants in BCS1L are known to be pathogenic (PMID: 17314340, 25895478). For these reasons, this variant has been classified as Pathogenic.

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