Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003542272 | SCV004247294 | uncertain significance | not provided | 2023-03-21 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 30477). This premature translational stop signal has been observed in individual(s) with blood group Langereis (PMID: 22246506). This variant is present in population databases (rs148458820, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This sequence change creates a premature translational stop signal (p.Trp239*) in the ABCB6 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ABCB6 cause disease. |
OMIM | RCV000023434 | SCV000044725 | affects | Langereis blood group | 2012-01-15 | no assertion criteria provided | literature only |