ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.739G>A (p.Ala247Thr)

gnomAD frequency: 0.00001  dbSNP: rs373756710
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001887142 SCV002160465 uncertain significance Spinocerebellar ataxia type 19/22 2022-12-06 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on KCND3 protein function. ClinVar contains an entry for this variant (Variation ID: 1395338). This variant has not been reported in the literature in individuals affected with KCND3-related conditions. This variant is present in population databases (rs373756710, gnomAD 0.04%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 247 of the KCND3 protein (p.Ala247Thr).

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