ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1861C>G (p.Pro621Ala)

gnomAD frequency: 0.00001  dbSNP: rs752495973
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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 RCV001918372 SCV002181966 uncertain significance Spinocerebellar ataxia type 19/22 2023-11-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 621 of the KCND3 protein (p.Pro621Ala). This variant is present in population databases (rs752495973, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with KCND3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1407304). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002407053 SCV002721909 uncertain significance Cardiovascular phenotype 2020-06-29 criteria provided, single submitter clinical testing The p.P621A variant (also known as c.1861C>G), located in coding exon 7 of the KCND3 gene, results from a C to G substitution at nucleotide position 1861. The proline at codon 621 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is highly 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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