ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys)

gnomAD frequency: 0.00003  dbSNP: rs753351853
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678779 SCV000804959 uncertain significance not specified 2017-08-17 criteria provided, single submitter clinical testing
Invitae RCV001049919 SCV001213997 uncertain significance Long QT syndrome 2023-09-10 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 560632). This missense change has been observed in individual(s) with clinical features of ANK2-related conditions (PMID: 30847666). This variant is present in population databases (rs753351853, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 2379 of the ANK2 protein (p.Thr2379Lys).
Ambry Genetics RCV002360704 SCV002662291 likely benign Cardiovascular phenotype 2020-05-22 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.
Fulgent Genetics, Fulgent Genetics RCV002477514 SCV002778117 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2022-01-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437392 SCV004148745 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing ANK2: BP4

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