ClinVar Miner

Submissions for variant NM_004974.4(KCNA2):c.20A>T (p.Asp7Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004585176 SCV005073902 uncertain significance Developmental and epileptic encephalopathy, 32 criteria provided, single submitter clinical testing The observed missense c.20A>T(p.Asp7Val) variant in KCNA2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency of 0.0008% in the gnomAD Exomes. The amino acid Asp at position 7 is changed to a Val changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Asp7Val in KCNA2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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