ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.797A>G (p.Tyr266Cys) (rs796052677)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187969 SCV000241572 likely pathogenic not provided 2013-01-24 criteria provided, single submitter clinical testing p.Tyr266Cys (TAC>TGC): c.797 A>G in exon 5 of the KCNQ3 gene (NM_004519.2) The Tyr266Cys 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 Tyr266Cys in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. Although Cysteine and Tyrosine are both uncharged, polar amino acid residues, the gain of a Cysteine may affect disulfide bond formation in the protein. Tyr266Cys alters a conserved position in a transmembrane domain in the KCNQ3 protein and multiple in-silico algorithms predict it may be damaging to the structure/function of the protein. However, to our knowledge missense mutations have not been previously reported in the same region of the protein. Therefore, based on the currently available information, Tyr266Cys is a strong candidate for a disease-causing mutation, although the possibility that it is a benign variant cannot be excluded. The variant is found in INFANT-EPI panel(s).

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