ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.63_71dup (p.Gly22_Gly24dup) (rs748459358)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188007 SCV000241610 uncertain significance not specified 2013-06-24 criteria provided, single submitter clinical testing p.Gly22_Gly24dup (G22_G24dup) in exon 1 of the KCNQ3 gene (NM_004519.2) The c.63_71dupAGGCGGCGG substitution 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 duplication of three amino acids in a poorly conserved region of the protein where the number of Glycine residues is known to vary through evolution. Therefore, based on the currently available information, it is unclear whether c.63_71dupAGGCGGCGG is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

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