Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000767903 | SCV000898542 | uncertain significance | Dias-Logan syndrome | 2021-03-30 | criteria provided, single submitter | clinical testing | BCL11A NM_018014 exon 4 p.Leu360Val (c.1078C>G): This variant has not been reported in the literature but is present in 1/15200 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs746326118). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Ambry Genetics | RCV002533924 | SCV003581804 | uncertain significance | Inborn genetic diseases | 2021-09-17 | criteria provided, single submitter | clinical testing | The c.1078C>G (p.L360V) alteration is located in exon 4 (coding exon 4) of the BCL11A gene. This alteration results from a C to G substitution at nucleotide position 1078, causing the leucine (L) at amino acid position 360 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |