ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg)

gnomAD frequency: 0.00004  dbSNP: rs375788705
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000219495 SCV000279223 uncertain significance not provided 2016-01-11 criteria provided, single submitter clinical testing The Q1288R variant in the ATP7A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q1288R variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q1288R variant is a semi-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret Q1288R as a variant of uncertain significance.
Invitae RCV000693165 SCV000821022 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354621 SCV002619994 likely benign Inborn genetic diseases 2021-08-09 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.
CeGaT Center for Human Genetics Tuebingen RCV000219495 SCV004165923 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing ATP7A: BS2; PGK1: BS2
Natera, Inc. RCV001274235 SCV001458108 uncertain significance Menkes kinky-hair syndrome 2020-04-11 no assertion criteria provided clinical testing

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