ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.9859A>T (p.Ile3287Phe)

gnomAD frequency: 0.00001  dbSNP: rs781204799
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622087 SCV000736049 uncertain significance Cardiovascular phenotype 2017-09-14 criteria provided, single submitter clinical testing The p.I3287F variant (also known as c.9859A>T), located in coding exon 38 of the ANK2 gene, results from an A to T substitution at nucleotide position 9859. This exon is expressed solely in brain (Mohler PJ et al. Circulation, 2007 Jan;115:432-41). The isoleucine at codon 3287 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860366 SCV002316696 uncertain significance Long QT syndrome 2021-06-02 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 518718). This variant is present in population databases (rs781204799, ExAC 0.02%). This sequence change replaces isoleucine with phenylalanine at codon 3287 of the ANK2 protein (p.Ile3287Phe). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and phenylalanine.

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