ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3210C>T (p.His1070=)

gnomAD frequency: 0.00012  dbSNP: rs185917115
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873741 SCV001015797 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001709694 SCV001936767 benign not provided 2020-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320036 SCV002610711 benign Inborn genetic diseases 2018-02-21 criteria provided, single submitter clinical testing This alteration is classified as 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.
Natera, Inc. RCV001274234 SCV001458107 benign Menkes kinky-hair syndrome 2020-04-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004742668 SCV005350931 benign ATP7A-related disorder 2024-03-06 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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