ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2121+3A>G (rs1248002612)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667868 SCV000792380 likely pathogenic Wilson disease 2017-06-21 criteria provided, single submitter clinical testing
Invitae RCV000667868 SCV001580444 pathogenic Wilson disease 2020-08-26 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the ATP7B gene. It does not directly change the encoded amino acid sequence of the ATP7B protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Wilson disease (PMID: 16283883, 19371217, 31708252, 23518715, 24668339). ClinVar contains an entry for this variant (Variation ID: 552579). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 19371217). For these reasons, this variant has been classified as Pathogenic.

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