ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.8324A>G (p.His2775Arg) (rs534934297)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087082 SCV000627676 likely benign Long QT syndrome 2020-05-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194187 SCV001363528 likely benign not specified 2019-02-25 criteria provided, single submitter clinical testing Variant summary: The variant, ANK2 c.8324A>G (p.His2775Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 6.5e-05 in 275306 control chromosomes, predominantly at a frequency of 0.00085 within the East Asian subpopulation in the gnomAD database. The observed variant frequency within East Asian control individuals in the gnomAD database is approximately 85 fold of the estimated maximal expected allele frequency for a pathogenic variant in ANK2 causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of East Asian origin. To our knowledge, no occurrence of c.8324A>G in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as likely benign.
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171381 SCV000221578 likely pathogenic not provided no assertion criteria provided research

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