ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.418del (p.Leu140fs)

dbSNP: rs1057517412
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409243 SCV000487240 likely pathogenic GRACILE syndrome 2016-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266390 SCV001444564 pathogenic Inborn genetic diseases 2019-10-15 criteria provided, single submitter clinical testing
Invitae RCV001865274 SCV002180923 pathogenic not provided 2020-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu140Trpfs*18) 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). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BCS1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 371616). For these reasons, this variant has been classified as Pathogenic.

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