ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1599dup (p.Phe534fs) (rs762289015)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187983 SCV000241586 uncertain significance not provided 2017-08-24 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNQ3 gene. The c.1599dupA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1599dupA variant causes a frameshift starting with codon Phenylalanine 534, changes this amino acid to an Isoleucine residue and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Phe534IlefsX15. 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 the c.1599dupA variant is a pathogenic variant or a rare benign variant.
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000824971 SCV000966146 pathogenic Seizures; Intellectual disability 2017-02-22 no assertion criteria provided clinical testing

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