ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.-50+405A>G

gnomAD frequency: 0.00002  dbSNP: rs898301590
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668517 SCV000793135 uncertain significance GRACILE syndrome 2017-07-28 criteria provided, single submitter clinical testing
Mendelics RCV000668517 SCV001136212 likely pathogenic GRACILE syndrome 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334241 SCV001527033 pathogenic Mitochondrial complex III deficiency nuclear type 1 2018-04-10 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002532074 SCV003524900 uncertain significance not provided 2022-06-07 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with mitochondrial complex III deficiency (PMID: 19389488, 28128857, 28496993). ClinVar contains an entry for this variant (Variation ID: 553134). Studies have shown that this variant alters BCS1L gene expression (PMID: 19389488). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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