ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.542G>A (p.Arg181Gln) (rs41308954)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000058239 SCV000262091 benign not provided 2019-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617359 SCV000736353 benign Cardiovascular phenotype 2016-11-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000058239 SCV000885628 likely benign not provided 2017-08-07 criteria provided, single submitter clinical testing The c.542G>A; p.Arg181Gln variant (rs41308954) has been reported in case controls for long QT syndrome and reported to ClinVar as a benign variant (Kapa 2009, Ackerman 2003, and Variation ID: 67510). This variant is listed in the Genome Aggregation Database (gnomAD) with a population frequency of 0.9 percent in the African population (identified on 85 out of 9,494 chromosomes). The arginine at position 181 is moderately conserved considering 14 species (Alamut v2.9.0) and computational analyses of the effects of the p.Arg181Gln variant on protein structure and function indicate benign outcomes (SIFT: tolerated, MutationTaster: polymorphism, PolyPhen-2: benign). Altogether the p.Arg181Gln variant is likely to be benign.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058239 SCV000089759 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:14661677;PMID:19841300).

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