ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.2377G>A (p.Asp793Asn)

gnomAD frequency: 0.00001  dbSNP: rs781352799
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001843103 SCV001346961 uncertain significance Cardiac arrhythmia 2021-11-24 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 793 of the KCNH2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in 2 individuals affected with long QT syndrome (PMID: 28749187). This variant has been identified in 2/251004 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV001876038 SCV002152918 uncertain significance Long QT syndrome 2023-01-29 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 793 of the KCNH2 protein (p.Asp793Asn). This variant is present in population databases (rs781352799, gnomAD 0.01%). 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 921995). This variant has not been reported in the literature in individuals affected with KCNH2-related conditions.

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