ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.-49-539T>A

dbSNP: rs386833855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049824 SCV000800718 uncertain significance GRACILE syndrome 2018-06-07 criteria provided, single submitter clinical testing
Invitae RCV003556129 SCV004293969 likely pathogenic not provided 2023-06-18 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 56411). This variant is also known as c.-588T>A. This variant has been observed in individual(s) with GRACILE syndrome (PMID: 12215968, 22277166). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This variant occurs in a non-coding region of the BCS1L gene. It does not change the encoded amino acid sequence of the BCS1L protein.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049824 SCV000082233 probable-pathogenic GRACILE syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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