ClinVar Miner

Submissions for variant NM_004974.4(KCNA2):c.1047A>G (p.Ala349=)

gnomAD frequency: 0.00026  dbSNP: rs371979518
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487779 SCV000574785 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083044 SCV001096891 likely benign Developmental and epileptic encephalopathy, 32 2023-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000487779 SCV001890705 benign not provided 2020-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404274 SCV002704158 likely benign Inborn genetic diseases 2017-06-07 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.
PreventionGenetics, part of Exact Sciences RCV004551595 SCV004780706 likely benign KCNA2-related disorder 2023-12-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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