ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln) (rs201328910)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720688 SCV000851567 likely benign Seizures 2017-03-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725514 SCV000337441 uncertain significance not provided 2015-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000187996 SCV000241599 uncertain significance not specified 2015-12-04 criteria provided, single submitter clinical testing The R777Q variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The R777Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved, and Glutamine is observed at this position in evolution. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000388137 SCV000471887 likely benign Benign Neonatal Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278630 SCV000471888 likely benign Benign familial neonatal seizures 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000278630 SCV000769700 likely benign Benign familial neonatal seizures 2017-12-13 criteria provided, single submitter clinical testing

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