ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1387G>A (p.Glu463Lys)

dbSNP: rs1571626257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231433 SCV001403955 uncertain significance Spinocerebellar ataxia type 19/22 2022-03-19 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 958292). This variant has not been reported in the literature in individuals affected with KCND3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 463 of the KCND3 protein (p.Glu463Lys).
Athena Diagnostics RCV002473233 SCV002770818 uncertain significance not provided 2021-07-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033124 SCV004891215 uncertain significance Cardiovascular phenotype 2024-01-08 criteria provided, single submitter clinical testing The c.1387G>A (p.E463K) alteration is located in exon 5 (coding exon 4) of the KCND3 gene. This alteration results from a G to A substitution at nucleotide position 1387, causing the glutamic acid (E) at amino acid position 463 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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