ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7396C>T (p.Arg2466Cys)

gnomAD frequency: 0.00004  dbSNP: rs562115547
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443537 SCV000536497 uncertain significance not provided 2019-01-08 criteria provided, single submitter clinical testing The R2466C variant of uncertain significance in the ANK2 gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 12/245416 (0.005%) alleles from individuals of multiple ethnic backgrounds in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. However, the R2466C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196023 SCV001366452 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2019-02-15 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BS1.
Invitae RCV001203990 SCV001375175 likely benign Long QT syndrome 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379398 SCV002673599 likely benign Cardiovascular phenotype 2020-03-26 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 RCV001196023 SCV002785201 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2021-08-04 criteria provided, single submitter clinical testing

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