ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1849A>G (p.Ile617Val)

gnomAD frequency: 0.00001  dbSNP: rs948125814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000640965 SCV000762570 uncertain significance Spinocerebellar ataxia type 19/22 2022-02-19 criteria provided, single submitter clinical testing 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 533723). This variant has not been reported in the literature in individuals affected with KCND3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 617 of the KCND3 protein (p.Ile617Val). 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.
Ambry Genetics RCV002406386 SCV002715151 uncertain significance Cardiovascular phenotype 2020-10-29 criteria provided, single submitter clinical testing The p.I617V variant (also known as c.1849A>G), located in coding exon 7 of the KCND3 gene, results from an A to G substitution at nucleotide position 1849. The isoleucine at codon 617 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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