ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val) (rs796052630)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187871 SCV000241471 uncertain significance not provided 2013-01-18 criteria provided, single submitter clinical testing p.Gly239Val (GGC>GTC): c.716 G>T in exon 5 of the KCNQ2 gene (NM_172107.2)The Gly239Val 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 Gly239Val 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, as Glycine and Valine are both uncharged, non-polar amino acid residues. However, Gly239Val alters a highly conserved position in the S5 transmembrane segment of the KCNQ2 protein, and other missense mutations in this region have been reported in association with benign familial neonatal seizures. Additionally, multiple in silico algorithms predict Gly239Val may be damaging to the structure/function of the protein. Therefore, based on the currently available information, it is unclear whether Gly239Val is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).
Mendelics RCV000990333 SCV001141276 likely pathogenic Benign familial neonatal seizures 1 2019-05-28 criteria provided, single submitter clinical testing

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