ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.296A>G (p.Tyr99Cys)

dbSNP: rs1584706364
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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 RCV000791704 SCV000930964 uncertain significance Early myoclonic encephalopathy 2018-10-04 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 99 of the KCND2 protein (p.Tyr99Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCND2-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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