ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala)

gnomAD frequency: 0.00002  dbSNP: rs760907112
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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 RCV001327715 SCV001518801 uncertain significance Spinocerebellar ataxia type 19/22 2023-07-10 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. 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 tolerated. This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 649 of the KCND3 protein (p.Val649Ala). This variant is present in population databases (rs760907112, gnomAD 0.02%). 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: 1027158).
Fulgent Genetics, Fulgent Genetics RCV002493711 SCV002781425 uncertain significance Spinocerebellar ataxia type 19/22; Brugada syndrome 9 2021-09-24 criteria provided, single submitter clinical testing

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