ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val)

dbSNP: rs778053688
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621723 SCV000737652 likely benign Cardiovascular phenotype 2024-01-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000678953 SCV000805168 uncertain significance Brugada syndrome 9 2018-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000801665 SCV000941453 uncertain significance Spinocerebellar ataxia type 19/22 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 586 of the KCND3 protein (p.Leu586Val). This variant is present in population databases (rs778053688, gnomAD 0.01%). This missense change has been observed in individual(s) with long QT syndrome (PMID: 31737537). ClinVar contains an entry for this variant (Variation ID: 519297). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KCND3 protein function with a negative predictive value of 80%. 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.

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