ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del)

dbSNP: rs774514148
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000587816 SCV000342327 uncertain significance not provided 2016-06-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587816 SCV000697745 uncertain significance not provided 2016-02-22 criteria provided, single submitter clinical testing Variant summary: The c.7054_7059delGGTCAA variant leads to deletion of 6 nucleotides (deletion of Gly and Gln) in a non-repetitive region. One in-silico tool predicts benign outcome for this variant. 5/5 programs in Alamut predict that this variant does not affect normal splicing. ESE finder predicts that this variant may affect ESE site of SC35. However, these predictions are not confirmed by experimental studies. This variant is found in 13/121240 control chromosomes at a frequency of 0.0001072, which is about 11 times of maximal expected frequency of a pathogenic allele (0.00001), suggesting this variant is benign. However, the sequencing data in controls did not pass the quality filter, which puts the control allele frequency in doubt. Co-occurrence with a pathogenic variant (KCNH2, c.215C>A/p.P72Q) has been found in one sample in our laboratory. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/other clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as VUS-possibly benign.
Invitae RCV001045075 SCV001208905 uncertain significance Long QT syndrome 2023-08-24 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 288266). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. This variant is present in population databases (rs774514148, gnomAD 0.01%). This variant, c.7054_7059del, results in the deletion of 2 amino acid(s) of the ANK2 protein (p.Gly2352_Gln2353del), but otherwise preserves the integrity of the reading frame.
GeneDx RCV000587816 SCV002104334 uncertain significance not provided 2023-01-03 criteria provided, single submitter clinical testing In-frame deletion of two amino acids in a non-repeat region; In silico analysis supports a deleterious effect on 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); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics RCV002374476 SCV002667970 likely benign Cardiovascular phenotype 2022-12-20 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 RCV002487254 SCV002779994 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2021-07-16 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252390 SCV001428145 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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