ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=)

gnomAD frequency: 0.00037  dbSNP: rs371939448
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082178 SCV000639994 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000615561 SCV000728902 benign not specified 2017-05-19 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.
CeGaT Center for Human Genetics Tuebingen RCV000659170 SCV000780986 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ATP7A: BP4, BP7, BS2; PGK1: BS2
Ambry Genetics RCV002316550 SCV000850170 likely benign Inborn genetic diseases 2016-09-01 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.
Natera, Inc. RCV001834781 SCV002089113 benign Menkes kinky-hair syndrome 2019-12-06 no assertion criteria provided clinical testing

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