ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.9825T>G (p.Asp3275Glu) (rs149043752)

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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 RCV000247736 SCV000318721 likely benign Cardiovascular phenotype 2017-12-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Invitae RCV000804212 SCV000944108 uncertain significance Long QT syndrome 2020-10-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 3275 of the ANK2 protein (p.Asp3275Glu). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs149043752, ExAC 0.06%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with ANK2-related disease. ClinVar contains an entry for this variant (Variation ID: 263634). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000998282 SCV001154258 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing

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