Total submissions: 4
| 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. |