ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.3255G>A (p.Ala1085=) (rs56173868)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444684 SCV000512035 likely benign not specified 2015-10-13 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 RCV000473586 SCV000545135 uncertain significance Long QT syndrome 2016-08-30 criteria provided, single submitter clinical testing This sequence change affects codon 1085 of the ANK2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ANK2 protein. This variant is present in population databases (rs56173868, ExAC 0.02%) but has not been reported in the literature in individuals with an ANK2-related disease. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000620641 SCV000738158 uncertain significance Cardiovascular phenotype 2017-09-12 criteria provided, single submitter clinical testing The c.3255G>A variant (also known as p.A1085A), located in coding exon 29, results from a G to A substitution at nucleotide position 3255 of the ANK2 gene. This nucleotide substitution does not change the amino acid at codon 1085. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000444684 SCV001363531 likely benign not specified 2019-09-06 criteria provided, single submitter clinical testing

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