ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1850G>C (p.Ser617Thr) (rs758002609)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187984 SCV000241587 uncertain significance not provided 2013-01-09 criteria provided, single submitter clinical testing p.Ser617Thr (AGC>ACC): c.1850 G>C in the KCNQ3 gene. The Ser617Thr missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Ser617Thr in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is conservative, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is highly conserved in the C-terminal region of the protein and multiple in silico models predict this variant is probably damaging to protein structure/function. However, missense mutations have not been previously reported in this region of the protein in association with epilepsy. The variant is found in EPILEPSY panel(s).

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