ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.889+1G>T

gnomAD frequency: 0.00001  dbSNP: rs1057516346
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411192 SCV000485504 likely pathogenic GRACILE syndrome 2015-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000522697 SCV000619524 pathogenic not provided 2017-08-14 criteria provided, single submitter clinical testing The c.889+1 G>T splice site variant in the BCS1L gene destroys the canonical splice donor site in intron 7. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Additionally, the c.889+1 G>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although this variant has not been previously reported to our knowledge, it is expected to be a pathogenic variant.
Invitae RCV000522697 SCV002117415 likely pathogenic not provided 2021-08-12 criteria provided, single submitter clinical testing

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