ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.9116A>G (p.Asp3039Gly)

gnomAD frequency: 0.00004  dbSNP: rs140539843
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819773 SCV000960453 uncertain significance Long QT syndrome 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 3039 of the ANK2 protein (p.Asp3039Gly). This variant is present in population databases (rs140539843, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 662181). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852555 SCV000995255 uncertain significance Sudden cardiac arrest 2019-03-15 criteria provided, single submitter clinical testing
New York Genome Center RCV001784450 SCV002025701 uncertain significance See cases 2020-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372334 SCV002684766 likely benign Cardiovascular phenotype 2024-01-04 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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