ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.772del (p.Asp258fs)

dbSNP: rs1363475546
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670440 SCV000795292 likely pathogenic GRACILE syndrome 2017-11-02 criteria provided, single submitter clinical testing
Invitae RCV001855542 SCV002125196 pathogenic not provided 2021-03-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BCS1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 554756). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp258Thrfs*13) in the BCS1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCS1L are known to be pathogenic (PMID: 17314340, 25895478).

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