ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7168A>C (p.Lys2390Gln)

gnomAD frequency: 0.00009  dbSNP: rs151218210
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618782 SCV000737902 likely benign Cardiovascular phenotype 2018-11-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001236673 SCV001409406 uncertain significance Long QT syndrome 2024-02-17 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2390 of the ANK2 protein (p.Lys2390Gln). This variant is present in population databases (rs151218210, gnomAD 0.01%). This missense change has been observed in individual(s) with long QT syndrome (PMID: 30847666). ClinVar contains an entry for this variant (Variation ID: 519391). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx RCV001796142 SCV002032410 uncertain significance not provided 2021-06-07 criteria provided, single submitter clinical testing Identified in association with arrhythmia (van Lint et al., 2019); however, clinical information was not provided; Reported in ClinVar (ClinVar Variant ID# 519391; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter 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); This variant is associated with the following publications: (PMID: 27535533, 1830053, 18790697, 26109584, 26582918, 30847666)

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