ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.82C>A (p.Pro28Thr)

dbSNP: rs1675024873
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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 RCV001317005 SCV001507647 uncertain significance Spinocerebellar ataxia type 19/22 2021-04-14 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). This variant has been observed in individual(s) with spinocerebellar ataxia (Invitae). ClinVar contains an entry for this variant (Variation ID: 1017799). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 28 of the KCND3 protein (p.Pro28Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine.

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