ClinVar Miner

Submissions for variant NM_022893.4(BCL11A):c.1078C>G (p.Leu360Val)

dbSNP: rs746326118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 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.

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