ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2916+3_2916+6del

dbSNP: rs797045364
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193969 SCV000246692 pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV002517057 SCV003445754 likely pathogenic Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2021-11-22 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 210437). This variant has been observed in individuals with Menkes disease (PMID: 21494555, 32293788; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 14 of the ATP7A gene. It does not directly change the encoded amino acid sequence of the ATP7A protein. It affects a nucleotide within the consensus splice site.

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