ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1277G>A (p.Arg426His)

gnomAD frequency: 0.00001  dbSNP: rs760274429
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992218 SCV001144301 uncertain significance not provided 2019-05-10 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV000992218 SCV002502497 uncertain significance not provided 2021-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372712 SCV002686451 uncertain significance Cardiovascular phenotype 2021-01-05 criteria provided, single submitter clinical testing The p.R426H variant (also known as c.1277G>A), located in coding exon 3 of the KCND3 gene, results from a G to A substitution at nucleotide position 1277. The arginine at codon 426 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002549786 SCV003448007 uncertain significance Spinocerebellar ataxia type 19/22 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 426 of the KCND3 protein (p.Arg426His). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 804951). This variant has not been reported in the literature in individuals affected with KCND3-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.

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