ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.607dup (p.Arg203fs)

gnomAD frequency: 0.00001  dbSNP: rs1057516255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410319 SCV000485363 likely pathogenic GRACILE syndrome 2015-11-24 criteria provided, single submitter clinical testing
Invitae RCV001043703 SCV001207462 pathogenic not provided 2020-09-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BCS1L are known to be pathogenic (PMID: 17314340, 25895478). This variant has not been reported in the literature in individuals with BCS1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 370128). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg203Lysfs*9) in the BCS1L gene. It is expected to result in an absent or disrupted protein product.

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