ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1621C>T (p.Arg541Cys)

gnomAD frequency: 0.00001  dbSNP: rs764666519
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206042 SCV001377329 uncertain significance Long QT syndrome 2021-08-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841184 SCV001735797 uncertain significance Cardiac arrhythmia 2020-10-07 criteria provided, single submitter clinical testing This missense variant replaces arginine with cysteine at codon 541 of the KCNH2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 3/247972 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.
Fulgent Genetics, Fulgent Genetics RCV002491623 SCV002786868 uncertain significance Short QT syndrome type 1; Long QT syndrome 2 2021-10-06 criteria provided, single submitter clinical testing

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