ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr)

gnomAD frequency: 0.00014  dbSNP: rs150684838
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171743 SCV000050742 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000171743 SCV000532693 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing Reported in one individual from a cohort of individuals not selected for cardiomyopathy, arrhythmia, or family history of sudden cardiac death, who underwent exome sequencing and was classified as "likely not pathogenic" (Ng et al., 2013); In silico analysis supports that this missense variant does not alter protein structure/function; Located in exon 38, which is reported as being expressed in a brain-specific transcript (Otto et al, 1991; Cunha et al, 2008; Wu et al, 2015); This variant is associated with the following publications: (PMID: 23861362)
Invitae RCV000688226 SCV000815829 uncertain significance Long QT syndrome 2023-07-31 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. ClinVar contains an entry for this variant (Variation ID: 191539). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2285 of the ANK2 protein (p.Ile2285Thr). This variant is present in population databases (rs150684838, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of ANK2-related conditions (Invitae).
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852971 SCV000995720 likely benign Cardiomyopathy 2017-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362877 SCV002666036 likely benign Cardiovascular phenotype 2019-06-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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