ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.446A>G (p.Asp149Gly)

dbSNP: rs1217571134
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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 RCV000518105 SCV000613849 uncertain significance not specified 2016-11-08 criteria provided, single submitter clinical testing
Invitae RCV001296003 SCV001484957 uncertain significance Spinocerebellar ataxia type 19/22 2020-06-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 149 of the KCND3 protein (p.Asp149Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with KCND3-related conditions. ClinVar contains an entry for this variant (Variation ID: 447628). This variant is not present in population databases (ExAC no frequency).
AiLife Diagnostics, AiLife Diagnostics RCV002223220 SCV002501798 uncertain significance not provided 2021-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023512 SCV005023488 uncertain significance Cardiovascular phenotype 2023-11-14 criteria provided, single submitter clinical testing The p.D149G variant (also known as c.446A>G), located in coding exon 1 of the KCND3 gene, results from an A to G substitution at nucleotide position 446. The aspartic acid at codon 149 is replaced by glycine, an amino acid with 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.

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