ClinVar Miner

Submissions for variant NM_004974.4(KCNA2):c.807C>T (p.Thr269=)

gnomAD frequency: 0.00073  dbSNP: rs146036196
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653139 SCV000775015 benign Developmental and epileptic encephalopathy, 32 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317895 SCV000851318 likely benign Inborn genetic diseases 2016-10-20 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.
GeneDx RCV001613430 SCV001839002 benign not provided 2019-03-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001613430 SCV002585051 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing KCNA2: BP4, BS1

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