ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1458C>T (p.Phe486=)

gnomAD frequency: 0.00010  dbSNP: rs141951341
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126461 SCV000169968 benign not specified 2013-02-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000461020 SCV000555719 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312574 SCV000846743 benign Inborn genetic diseases 2016-10-31 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV003436944 SCV004150922 benign not provided 2024-08-01 criteria provided, single submitter clinical testing KCNQ2: BP4, BP7, BS1, BS2

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