ClinVar Miner

Submissions for variant NM_021629.4(GNB4):c.186T>C (p.His62=)

gnomAD frequency: 0.00155  dbSNP: rs149798652
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475460 SCV000558975 benign Charcot-Marie-Tooth disease dominant intermediate F 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531584 SCV001746785 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing GNB4: BP4, BP7
GeneDx RCV001531584 SCV001821112 likely benign not provided 2022-02-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28975462)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000475460 SCV002049809 likely benign Charcot-Marie-Tooth disease dominant intermediate F 2023-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411542 SCV002723491 likely benign Inborn genetic diseases 2019-07-11 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.

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