ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1496C>G (p.Ser499Cys)

dbSNP: rs976664434
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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 RCV000691029 SCV000818768 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. 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 C0"). ClinVar contains an entry for this variant (Variation ID: 570216). This variant has not been reported in the literature in individuals affected with KCND3-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 499 of the KCND3 protein (p.Ser499Cys).
Fulgent Genetics, Fulgent Genetics RCV002493172 SCV002793002 uncertain significance Spinocerebellar ataxia type 19/22; Brugada syndrome 9 2021-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629299 SCV005122511 uncertain significance Cardiovascular phenotype 2024-06-18 criteria provided, single submitter clinical testing The p.S499C variant (also known as c.1496C>G), located in coding exon 5 of the KCND3 gene, results from a C to G substitution at nucleotide position 1496. The serine at codon 499 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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