ClinVar Miner

Submissions for variant NM_004974.4(KCNA2):c.1433A>G (p.Lys478Arg)

gnomAD frequency: 0.00001  dbSNP: rs1243868138
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992217 SCV001144300 uncertain significance not provided 2018-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067593 SCV002453531 likely benign Developmental and epileptic encephalopathy, 32 2021-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030137 SCV004889914 uncertain significance Inborn genetic diseases 2024-03-01 criteria provided, single submitter clinical testing The c.1433A>G (p.K478R) alteration is located in exon 3 (coding exon 1) of the KCNA2 gene. This alteration results from a A to G substitution at nucleotide position 1433, causing the lysine (K) at amino acid position 478 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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