ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.285C>A (p.Tyr95Ter)

dbSNP: rs1555881741
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518946 SCV000618377 likely pathogenic not provided 2017-04-03 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the KCNQ2 gene. The Y95X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Y95X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y95X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Invitae RCV001384184 SCV001583571 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-12-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157, 23692823, 27779742). This variant has not been reported in the literature in individuals with KCNQ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 449910). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Tyr95*) in the KCNQ2 gene. It is expected to result in an absent or disrupted protein product.

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