ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.3105_3107dup (p.Gly1036dup)

dbSNP: rs794728469
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001049159 SCV001213193 uncertain significance Long QT syndrome 2023-12-15 criteria provided, single submitter clinical testing This variant, c.3105_3107dup, results in the insertion of 1 amino acid(s) of the KCNH2 protein (p.Gly1036dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with KCNH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 845975). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002320277 SCV002605932 uncertain significance Cardiovascular phenotype 2024-03-14 criteria provided, single submitter clinical testing The c.3105_3107dupGGG variant (also known as p.G1036dup), located in coding exon 13 of the KCNH2 gene, results from an in-frame duplication of GGG at nucleotide positions 3105 to 3107. This results in the duplication of an extra glycine residue between codons 1036 and 1037. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002479301 SCV002782096 uncertain significance Short QT syndrome type 1; Long QT syndrome 2 2021-11-03 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.