ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.1563A>G (p.Lys521=)

gnomAD frequency: 0.00002  dbSNP: rs751681894
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489284 SCV000577275 uncertain significance not provided 2017-04-05 criteria provided, single submitter clinical testing The c.1563 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1563 A>G variant was not observed at any significance frequency in the in the ExAC dataset (Lek et al., 2016). In-silico splice prediction models are inconsistent in their predictions as to whether or not this variant is results in abnormal splicing. In the absence of RNA/functional studies, the effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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