ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2330C>G (p.Pro777Arg)

gnomAD frequency: 0.00010  dbSNP: rs142729516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711601 SCV000241439 likely benign not provided 2020-08-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24136861)
Labcorp Genetics (formerly Invitae), Labcorp RCV000690931 SCV000818662 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453691 SCV002736338 likely benign Inborn genetic diseases 2017-11-13 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.

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