ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)

gnomAD frequency: 0.00009  dbSNP: rs367775730
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000529093 SCV000292488 benign not provided 2018-10-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28389643, 17717039, 19501626, 7943608, 3234433, 15981243, 20420124)
Labcorp Genetics (formerly Invitae), Labcorp RCV001085537 SCV000639975 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000529093 SCV001150389 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450718 SCV002739284 benign Inborn genetic diseases 2021-10-21 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.
Revvity Omics, Revvity RCV000529093 SCV003834463 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium Ii, University Of Miami RCV003311726 SCV004012058 uncertain significance Menkes kinky-hair syndrome 2016-01-06 no assertion criteria provided literature only

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