ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)

gnomAD frequency: 0.00010  dbSNP: rs368622356
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445022 SCV000531041 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing
Invitae RCV001085591 SCV001092198 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2023-12-30 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196180 SCV001366715 uncertain significance Cutis laxa, X-linked 2019-08-17 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3. This variant was detected in hemizygous state.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279202 SCV002566145 uncertain significance Ehlers-Danlos syndrome 2022-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348215 SCV002648481 likely benign Inborn genetic diseases 2019-05-02 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen RCV000445022 SCV004165910 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing ATP7A: BS2
Natera, Inc. RCV001274227 SCV001458100 likely benign Menkes kinky-hair syndrome 2020-06-03 no assertion criteria provided clinical testing

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