ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2092A>C (p.Ile698Leu)

dbSNP: rs1958635417
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002936203 SCV003669896 uncertain significance Inborn genetic diseases 2022-12-21 criteria provided, single submitter clinical testing The c.2092A>C (p.I698L) alteration is located in exon 7 (coding exon 7) of the ATP7B gene. This alteration results from a A to C substitution at nucleotide position 2092, causing the isoleucine (I) at amino acid position 698 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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