ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.5313G>A (p.Lys1771=) (rs140992864)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246914 SCV000320593 likely benign Cardiovascular phenotype 2015-12-24 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000542104 SCV000627652 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590344 SCV000697738 benign not provided 2016-12-19 criteria provided, single submitter clinical testing Variant summary: The c.5313G>A (p.Lys1771=) in ANK2 gene is a synonymous change that involves a non-conserved nucleotide. 4/5 programs in Alamut predict that this variant does not affect a normal splicing, however no functional studies supporting these predictions were published at the time of evaluation. The variant is present in the large control population dataset of ExAC at a frequency 0.000066 (8/121064 chrs tested), exclusively in individuals of African origin (0.00077; 8/10334 chrs tested). This frequency exceeds the estimated maximal expected allele frequency of a pathogenic variant in ANK2 gene (0.00001). The c. 5313G>A has not, to our knowledge, been reported in affected individuals via published reports, but is cited as Likely Benign by a reputable database/clinical laboratory. The variant seems to be an ethnic specific polymorphism, therefore it has been classified as Benign.

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