ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.2987G>A (p.Arg996Gln)

gnomAD frequency: 0.00001  dbSNP: rs200124480
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245375 SCV000318543 uncertain significance Cardiovascular phenotype 2013-04-04 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Labcorp Genetics (formerly Invitae), Labcorp RCV001048491 SCV001212501 uncertain significance Long QT syndrome 2021-04-16 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 234979). This variant is present in population databases (rs200124480, ExAC 0.02%). This sequence change replaces arginine with glutamine at codon 996 of the ANK2 protein (p.Arg996Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.
Fulgent Genetics, Fulgent Genetics RCV002485445 SCV002788288 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2021-09-28 criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000223799 SCV000280050 uncertain significance not specified 2013-04-26 no assertion criteria provided clinical testing Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. Based on the data reviewed below we consider it a variant of uncertain significance. The variant has not been reported in association with disease but it has been seen in one individual from a general population sample. In silico analysis with PolyPhen-2 predicts the variant to be probably damaging and SIFT predicts it to be deleterious. The arginine at codon 996 is completely conserved across species, as are neighboring amino acids. In total the variant has been seen in 1 of ~7592 individuals from publicly available population datasets. The variant is not listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls on ~6500 Caucasian and African American individuals (as of April 26th, 2013). It was observed in 1 of 1092 individuals in 1000 genomes. The variant is listed in dbSNP (rs200124480), which points to the 1000 genomes data.

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