ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2060A>T (p.Tyr687Phe)

dbSNP: rs757584140
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001219677 SCV001391627 uncertain significance Benign neonatal seizures 2019-06-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with KCNQ3-related conditions. This sequence change replaces tyrosine with phenylalanine at codon 687 of the KCNQ3 protein (p.Tyr687Phe). The tyrosine residue is highly conserved and there is a small physicochemical difference between tyrosine and phenylalanine. This variant is present in population databases (rs757584140, ExAC 0.001%). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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