ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.221G>A (p.Arg74His)

gnomAD frequency: 0.00001  dbSNP: rs201893621
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463594 SCV000549190 uncertain significance Long QT syndrome 2023-10-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 74 of the CAV3 protein (p.Arg74His). This variant is present in population databases (rs201893621, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CAV3-related conditions. ClinVar contains an entry for this variant (Variation ID: 409256). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Eurofins Ntd Llc (ga) RCV000727940 SCV000855453 uncertain significance not provided 2017-07-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769172 SCV000900547 uncertain significance Cardiomyopathy 2015-09-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496772 SCV002812717 uncertain significance Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type 2021-08-16 criteria provided, single submitter clinical testing

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