ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1345C>T (p.Leu449Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002387805 SCV002692377 uncertain significance Cardiovascular phenotype 2021-10-21 criteria provided, single submitter clinical testing The p.L449F variant (also known as c.1345C>T), located in coding exon 3 of the KCND3 gene, results from a C to T substitution at nucleotide position 1345. The leucine at codon 449 is replaced by phenylalanine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003095006 SCV003444914 uncertain significance Spinocerebellar ataxia type 19/22 2022-03-19 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 0.1%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 449 of the KCND3 protein (p.Leu449Phe).

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