ClinVar Miner

Submissions for variant NM_004974.4(KCNA2):c.1291C>G (p.Gln431Glu)

dbSNP: rs2101395841
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002222821 SCV002499905 uncertain significance not provided 2021-10-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003164310 SCV003909206 uncertain significance Inborn genetic diseases 2023-03-06 criteria provided, single submitter clinical testing The c.1291C>G (p.Q431E) alteration is located in exon 3 (coding exon 1) of the KCNA2 gene. This alteration results from a C to G substitution at nucleotide position 1291, causing the glutamine (Q) at amino acid position 431 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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