ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.3153G>T (p.Arg1051Ser)

dbSNP: rs1800920453
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224349 SCV001396539 uncertain significance Long QT syndrome 2022-01-15 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 952274). This variant has not been reported in the literature in individuals affected with KCNH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 1051 of the KCNH2 protein (p.Arg1051Ser).
Ambry Genetics RCV002322088 SCV002608537 uncertain significance Cardiovascular phenotype 2021-07-01 criteria provided, single submitter clinical testing The p.R1051S variant (also known as c.3153G>T), located in coding exon 14 of the KCNH2 gene, results from a G to T substitution at nucleotide position 3153. This variant impacts the first base pair of coding exon 14. The arginine at codon 1051 is replaced by serine, an amino acid with dissimilar properties, and is located in the C-terminal domain. This amino acid position is well conserved in available vertebrate species; however, serine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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