ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2128T>C (p.Tyr710His)

gnomAD frequency: 0.00002  dbSNP: rs181746838
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187990 SCV000241593 likely benign not provided 2019-07-19 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31031587)
Invitae RCV001082003 SCV000649485 likely benign Benign neonatal seizures 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415809 SCV002728990 benign Inborn genetic diseases 2020-01-24 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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