ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1367G>A (p.Arg456Gln)

gnomAD frequency: 0.00012  dbSNP: rs761082551
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704291 SCV000527447 likely benign not provided 2021-06-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000534631 SCV000655423 benign Developmental and epileptic encephalopathy, 26 2024-12-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704291 SCV004154686 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing KCNB1: BP5, BS1:Supporting
Ambry Genetics RCV004022402 SCV004889002 likely benign Inborn genetic diseases 2023-10-20 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.
PreventionGenetics, part of Exact Sciences RCV004533052 SCV004715887 likely benign KCNB1-related disorder 2023-11-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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