ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.64G>C (p.Val22Leu)

dbSNP: rs746823484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802802 SCV000942647 uncertain significance Early myoclonic encephalopathy 2023-07-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 22 of the KCND2 protein (p.Val22Leu). This variant is present in population databases (rs746823484, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with KCND2-related conditions. ClinVar contains an entry for this variant (Variation ID: 648141). 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) performed at Invitae indicates that this missense variant is not expected to disrupt KCND2 protein function. 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.
Ambry Genetics RCV002534722 SCV003638630 uncertain significance Inborn genetic diseases 2022-08-02 criteria provided, single submitter clinical testing The c.64G>C (p.V22L) alteration is located in exon 1 (coding exon 1) of the KCND2 gene. This alteration results from a G to C substitution at nucleotide position 64, causing the valine (V) at amino acid position 22 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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