ClinVar Miner

Submissions for variant NM_005472.5(KCNE3):c.304A>G (p.Met102Val)

gnomAD frequency: 0.00003  dbSNP: rs556647231
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001300353 SCV001489490 uncertain significance Brugada syndrome 6 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 102 of the KCNE3 protein (p.Met102Val). This variant is present in population databases (rs556647231, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with KCNE3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1003756). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001508316 SCV001714384 uncertain significance not provided 2020-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002447285 SCV002754017 uncertain significance Cardiovascular phenotype 2024-03-11 criteria provided, single submitter clinical testing The p.M102V variant (also known as c.304A>G), located in coding exon 1 of the KCNE3 gene, results from an A to G substitution at nucleotide position 304. The methionine at codon 102 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Dept of Medical Biology, Uskudar University RCV003318400 SCV004022063 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2, BP4

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