ClinVar Miner

Submissions for variant NM_172107.3(KCNQ2):c.1888del (p.Val630Serfs) (rs796052668)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187950 SCV000241553 pathogenic not provided 2013-12-11 criteria provided, single submitter clinical testing c.1888delG: p.Val630SerfsX12 (V630Sfsx12) in exon 17 of the KCNQ2 gene (NM_172107.2). Using uppercase to denote exonic nucleotides and lowercase to denote intronic nucleotides, the normal sequence with the deleted base in braces is: gcag{G}TCTT.The c.1888delG mutation in the KCNQ2 gene causes a deletion of the first nucleotide of exon 17 and is predicted by multiple in silico models to damage or even destroy the splice acceptor site in exon 17, leading to abnormal gene splicing. If c.1888delG does not alter splicing, it will result in a frameshift starting with codon Valine 630, changes this amino acid to a Serine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Val630SerfsX12. This mutation is predicted to cause loss of normal protein function through protein truncation as the last 243 amino acids of the protein are replaced by 11 incorrect amino acids. Although this mutation has not been previously reported to our knowledge, its presence is consistent with a diagnosis of a KCNQ2-related disorder. The variant is found in INFANT-EPI panel(s).

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