ClinVar Miner

Submissions for variant NM_005689.4(ABCB6):c.717G>A (p.Trp239Ter)

gnomAD frequency: 0.00014  dbSNP: rs148458820
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Total submissions: 2
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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

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