ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)

gnomAD frequency: 0.00066  dbSNP: rs2234938
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152813 SCV000202207 benign not specified 2017-03-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000152813 SCV000246736 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000152813 SCV000532157 benign not specified 2017-01-10 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 RCV000532853 SCV000639995 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 RCV002316960 SCV000851849 benign Inborn genetic diseases 2017-02-28 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 RCV002277300 SCV002565205 benign Ehlers-Danlos syndrome 2020-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000532853 SCV002794841 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2022-04-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927477 SCV004739774 benign ATP7A-related condition 2019-08-16 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000532853 SCV001457719 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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