ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1697G>A (p.Arg566His)

gnomAD frequency: 0.00001  dbSNP: rs761867267
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992222 SCV001144306 uncertain significance not provided 2019-05-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002550634 SCV003524345 uncertain significance Spinocerebellar ataxia type 19/22 2023-08-08 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 804954). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 566 of the KCND3 protein (p.Arg566His). This variant is present in population databases (rs761867267, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with KCND3-related conditions.

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