ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1720C>A (p.Pro574Thr) (rs74582884)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187981 SCV000241584 uncertain significance not provided 2015-04-29 criteria provided, single submitter clinical testing p.Pro574Thr (CCT>ACT): c.1720 C>A in exon 13 of the KCNQ3 gene (NM_004519.2) The P574T missense change was previously identified in a patient with idiopathic epilepsy and was not detected in controls; however, no additional information was provided (Klassen et al., 2011). It 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 P574T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is highly conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to 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. The variant is found in EPILEPSY panel(s).
Ambry Genetics RCV000622336 SCV000742150 uncertain significance Inborn genetic diseases 2017-02-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected

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