ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=)

gnomAD frequency: 0.00002  dbSNP: rs1557239138
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545476 SCV000639996 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279348 SCV002565216 uncertain significance Ehlers-Danlos syndrome 2020-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330881 SCV002629207 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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