ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1965G>T (p.Leu655=)

dbSNP: rs574041847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780928 SCV000918588 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Invitae RCV001413641 SCV001615760 uncertain significance Wilson disease 2022-08-16 criteria provided, single submitter clinical testing This sequence change affects codon 655 of the ATP7B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATP7B protein. This variant is present in population databases (rs574041847, gnomAD 0.002%). This variant has been observed in individual(s) with clinical features of Wilson disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 633066). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.

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