ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1870-3T>A

dbSNP: rs1557234394
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519542 SCV000620593 uncertain significance not provided 2017-09-05 criteria provided, single submitter clinical testing The c.1870-3T>A variant in the ATP7A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice acceptor site in intron 7, and may cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of c.1870-3T>A in this individual is unknown. The c.1870-3T>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1870-3T>A as a variant of uncertain significance.

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