ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.399del (p.Glu133fs)

dbSNP: rs751484879
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV000778594 SCV000914901 uncertain significance BCS1L-Related Disorders 2017-08-22 criteria provided, single submitter clinical testing The BCS1L c.399delA (p.Glu133AspfsTer25) variant has been reported in one study and is found in one individual with complex III deficiency in a compound heterozygous state with a missense variant. The variant was also present in the unaffected mother in a heterozygous state (Tegelberg et al. 2017). Control data are unavailable for the p.Glu133AspfsTer25 variant, which is reported at a frequency of 0.00036 in the European American population of the Exome Sequencing Project. Based on the limited evidence, the p.Glu133AspfsTer25 variant is classified as a variant of unknown significance but suspicious for pathogenicity for BCS1L-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000801063 SCV000940819 pathogenic not provided 2020-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu133Aspfs*25) in the BCS1L gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs751484879, ExAC 0.02%). This variant has not been reported in the literature in individuals with a BCS1L-related disease. Loss-of-function variants in BCS1L are known to be pathogenic (PMID: 17314340, 25895478). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001825516 SCV002076349 pathogenic GRACILE syndrome 2020-12-15 no assertion criteria provided clinical testing

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