ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)

gnomAD frequency: 0.00001  dbSNP: rs782006661
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000640891 SCV000762495 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
GeneDx RCV001756068 SCV001985723 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing Has been reported in at least one individual with ataxia, dystonia, spasticity and/or an extrapyramidal movement disorder in published literature (Bansagi et al., 2016; Bansagi et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28251916, 27878136, 34426522, 33210134)
Ambry Genetics RCV002449008 SCV002733330 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: 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 RCV001756068 SCV003834469 uncertain significance not provided 2023-03-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000640891 SCV001457710 uncertain significance 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
Solve-RD Consortium RCV004768496 SCV005091499 likely pathogenic X-linked distal spinal muscular atrophy type 3 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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