ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2709C>T (p.Cys903=)

gnomAD frequency: 0.00028  dbSNP: rs140838569
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698402 SCV000726001 likely benign not provided 2021-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000640912 SCV000762516 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431806 SCV002742893 benign Inborn genetic diseases 2017-09-29 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.
PreventionGenetics, part of Exact Sciences RCV003953067 SCV004773252 likely benign ATP7A-related disorder 2024-05-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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