ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)

gnomAD frequency: 0.00750  dbSNP: rs143907597
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193020 SCV000246645 uncertain significance not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000193020 SCV000512204 benign not specified 2015-06-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000534012 SCV000639964 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314787 SCV000848203 benign Inborn genetic diseases 2016-11-04 criteria provided, single submitter clinical testing This alteration is classified as 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277449 SCV002566178 likely benign Ehlers-Danlos syndrome 2020-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274230 SCV001458103 benign Menkes kinky-hair syndrome 2019-11-11 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000193020 SCV001739710 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573423 SCV001799300 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000193020 SCV001917553 benign not specified no assertion criteria provided clinical testing

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