ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.670C>A (p.Arg224=)

gnomAD frequency: 0.00022  dbSNP: rs201072665
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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 RCV000635192 SCV000756570 benign Early myoclonic encephalopathy 2025-01-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712913 SCV005267025 benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005240362 SCV005887011 benign not specified 2025-01-27 criteria provided, single submitter clinical testing Variant summary: KCND2 c.670C>A alters a conserved nucleotide resulting in a synonymous change. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a cryptic 5' donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0014 in 251430 control chromosomes in the gnomAD database, including 6 homozygotes. The observed variant frequency is approximately 221 fold of the estimated maximal expected allele frequency for a pathogenic variant in KCND2 causing Arrhythmia phenotype (6.3e-06). To our knowledge, no occurrence of c.670C>A in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 529732). Based on the evidence outlined above, the variant was classified as benign.

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