ClinVar Miner

Submissions for variant NC_000023.10:g.(?_77227108)_(77258743_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001386932 SCV001587332 pathogenic Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2020-05-23 criteria provided, single submitter clinical testing Loss-of-function variants in ATP7A are known to be pathogenic (PMID: 11241493, 20652413). This variant has been observed in individual(s) with Menkes disease (PMID: 14635105). This variant is a gross deletion of the genomic region encompassing exon(s) 2-6 of the ATP7A gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 6 of the ATP7A gene. This is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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