ClinVar Miner

Submissions for variant NM_002246.3(KCNK3):c.167A>T (p.Gln56Leu)

dbSNP: rs1336188397
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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 RCV001906142 SCV002162565 uncertain significance Pulmonary hypertension, primary, 4 2021-09-06 criteria provided, single submitter clinical testing This sequence change replaces glutamine with leucine at codon 56 of the KCNK3 protein (p.Gln56Leu). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with KCNK3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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