ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.821_825del (p.Tyr274fs)

dbSNP: rs1085307570
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000488981 SCV000576743 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCND2 gene. The c.821_825delACATT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.821_825delACATT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.821_825delACATT variant causes a frameshift starting with codon Tyrosine 274, changes this amino acid to a Tryptophan residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Tyr274TrpfsX8. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001856894 SCV002165045 uncertain significance Early myoclonic encephalopathy 2021-11-26 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. ClinVar contains an entry for this variant (Variation ID: 426332). This variant has not been reported in the literature in individuals affected with KCND2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr274Trpfs*8) in the KCND2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in KCND2 cause disease.

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