ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1435C>T (p.Gln479Ter)

dbSNP: rs1569549695
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757019 SCV000885044 pathogenic not provided 2017-06-09 criteria provided, single submitter clinical testing To our knowledge, the ATP7A c.1435C>T; p.Gln479Ter variant has not been previously reported in the literature or gene-specific variant databases, nor listed in general population databases (Exome Variant Server, Genome Aggregation Database). This variant induces an early termination codon and is predicted to result in a truncated protein or absent transcript. Therefore, this variant is considered pathogenic.

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