ClinVar Miner

Submissions for variant NM_004974.4(KCNA2):c.35C>T (p.Ala12Val)

gnomAD frequency: 0.00006  dbSNP: rs372822052
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821582 SCV000962344 likely benign Developmental and epileptic encephalopathy, 32 2024-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001575914 SCV001803005 likely benign not provided 2021-05-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15979945)
Ambry Genetics RCV002537507 SCV003740745 likely benign Inborn genetic diseases 2021-08-04 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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