ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1924_1925del (p.Asp642fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002308047 SCV002604512 likely pathogenic Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2022-03-04 criteria provided, single submitter clinical testing NM_000052.5(ATP7A):c.1924_1925delGA(D642Sfs*2) is expected to be pathogenic in the context of ATP7A-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ATP7A, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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