ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.888C>T (p.Thr296=)

gnomAD frequency: 0.00001  dbSNP: rs370760854
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126453 SCV000169960 benign not specified 2013-03-26 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.
Invitae RCV000540313 SCV000634078 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312895 SCV000849400 benign Inborn genetic diseases 2016-08-12 criteria provided, single submitter clinical testing This alteration is classified as 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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