ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.121-2del

dbSNP: rs1287511385
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521995 SCV000620517 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing Located in a region that tolerates variation and lacks pathogenic variants; In silico analysis supports that this variant does not alter splicing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085185 SCV001111931 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358415 SCV002656495 uncertain significance Inborn genetic diseases 2017-10-12 criteria provided, single submitter clinical testing The c.121-2delA intronic variant, located in intron 1 of the ATP7A gene, results from a deletion of one nucleotide within intron 1 of the ATP7A gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor/donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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