ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=)

gnomAD frequency: 0.00002  dbSNP: rs782346811
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875767 SCV001018241 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332841 SCV002632868 likely benign Inborn genetic diseases 2017-11-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV003955731 SCV004766903 likely benign ATP7A-related condition 2023-01-31 criteria provided, single submitter 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).
Natera, Inc. RCV000875767 SCV001457718 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2020-09-16 no assertion criteria provided clinical testing

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