ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2491C>T (p.Arg831Trp)

gnomAD frequency: 0.00006  dbSNP: rs185628977
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721203 SCV000241562 likely benign not provided 2019-04-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000187959 SCV000613883 uncertain significance not specified 2017-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314725 SCV000849137 uncertain significance Inborn genetic diseases 2017-02-28 criteria provided, single submitter clinical testing The p.R831W variant (also known as c.2491C>T), located in coding exon 15 of the KCNQ3 gene, results from a C to T substitution at nucleotide position 2491. The arginine at codon 831 is replaced by tryptophan, an amino acid with dissimilar properties. This variant did not co-segregate with disease in three individuals tested in our laboratory. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000861903 SCV001002318 likely benign Benign neonatal seizures 2023-09-27 criteria provided, single submitter clinical testing

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