ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.98A>T (p.Asp33Val)

gnomAD frequency: 0.00001  dbSNP: rs760460512
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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 RCV001969896 SCV002218133 uncertain significance Spinocerebellar ataxia type 19/22 2021-08-03 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. 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. This variant has not been reported in the literature in individuals affected with KCND3-related conditions. This variant is present in population databases (rs760460512, ExAC 0.002%). This sequence change replaces aspartic acid with valine at codon 33 of the KCND3 protein (p.Asp33Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine.
Ambry Genetics RCV002386784 SCV002690978 uncertain significance Cardiovascular phenotype 2019-10-08 criteria provided, single submitter clinical testing The p.D33V variant (also known as c.98A>T), located in coding exon 1 of the KCND3 gene, results from an A to T substitution at nucleotide position 98. The aspartic acid at codon 33 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is not 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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