ClinVar Miner

Submissions for variant NM_001374385.1(ATP8B1):c.941-20A>G

gnomAD frequency: 0.00001  dbSNP: rs1366870956
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579275 SCV000681139 uncertain significance not provided 2017-12-15 criteria provided, single submitter clinical testing The c.941-20 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.941-20 A>G variant is observed in 3/33,036 (0.09%) alleles from individuals of Latino background, in the ExAC dataset (Lek et al., 2016). Although in silico splice prediction models do not predict that c.941-20 A>G affected splicing, in the absence of RNA/functional studies, the actual 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000579275 SCV004652031 likely benign not provided 2023-12-08 criteria provided, single submitter clinical testing

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