ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.36_60del (p.Gly13fs) (rs772417096)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188005 SCV000241608 uncertain significance not specified 2014-03-11 criteria provided, single submitter clinical testing The c.36_60del25 variant in the KCNQ3 gene causes a frameshift starting with codon Glycine 13, changes this amino acid to a Glutamic acid residue and creates a premature Stop codon at position 73 of the new reading frame, denoted p.Gly13GlufsX73. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, to our knowledge, all reported KCNQ3 mutations have been missense substitutions. The c.36_60del25 variant may be benign; however, the possibility that it is a disease-causing mutation cannot be excluded. The variant is found in KCNQ3 panel(s).
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000188005 SCV000257979 uncertain significance not specified 2015-04-14 criteria provided, single submitter clinical testing

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