ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.875_876delinsCCT (p.Leu292fs) (rs796052664)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187943 SCV000241546 likely pathogenic not provided 2014-12-22 criteria provided, single submitter clinical testing c.875_877 delTCCinsCCT: p.Leu292_Leu293delinsProPhe (L292_L293delinsPF) in exon 6 of the KCNQ2 gene (NM_172107.2). The normal sequence with the deleted bases in braces and the inserted bases in brackets is: AGGC{TCC}[CCT]TTGC.The c.875_877 delTCCinsCCT variant, likely pathogenic, is caused by two nucleotide substitutions (c.875 T>C, p.L292P and c.877 C>T, p.L293F) altering adjacent amino acids on the same allele (in cis), denoted p.Leu292_Leu293delinsProPhe. The c.875_877 delTCCinsCCT variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It results in an in-frame deletion of two Leucine residues and the insertion of a Proline and a Phenylalanine residue, denoted p.Leu292_Leu293delinsProPhe. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.875_877 delTCCinsCCT variant alters residues that are conserved through mammals, and other in-frame mutations have been reported in association with KCNQ2-related disorders. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in EPILEPSYV2-1 panel(s).

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