ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.5985G>A (p.Lys1995=) (rs116652427)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251907 SCV000318699 likely benign Cardiovascular phenotype 2017-01-04 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000443213 SCV000527775 likely benign not specified 2017-11-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001086512 SCV000627659 benign Long QT syndrome 2020-09-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589398 SCV000697740 benign not provided 2016-09-06 criteria provided, single submitter clinical testing Variant summary: The ANK2 c.5985G>A (p.Lys1995Lys) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant, and 5/5 splicing algorithms predict no significant change to normal splicing. This variant was found in 29/120876 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0027855 (28/10052). This frequency is about 279 times the estimated maximal expected allele frequency of a pathogenic ANK2 variant (0.00001), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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