ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.612G>T (p.Gln204His) (rs796052625)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187861 SCV000241461 likely pathogenic not provided 2016-11-23 criteria provided, single submitter clinical testing p.Gln204His (CAG>CAT): c.612 G>T in exon 4 of the KCNQ2 gene (NM_172107.2) The Gln204His missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. However, a different amino acid substitution at the same position (Gln204Arg) was reported as a mutation tested previously at GeneDx. The Gln204His variant 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 amino acid substitution is non-conservative as an uncharged, Glutamine residue is replaced by a positively charged Histidine residue and several in-silico algorithms predict it may be damaging to the structure/function of the protein. Gln204His alters a conserved position in the KCNQ2 protein, although Histidine is seen in this position in one species. Therefore, based on the currently available information, Gln204His is a strong candidate for a disease-causing mutation, although the possibility that it is a benign variant cannot be excluded. The variant is found in INFANT-EPI panel(s).

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