ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.11230A>C (p.Thr3744Pro)

gnomAD frequency: 0.00010  dbSNP: rs372212045
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170711 SCV000223264 uncertain significance not provided 2021-12-23 criteria provided, single submitter clinical testing Reported in a patient with sudden unexplained death (Lin et al., 2017); however, specific clinical information was not provided; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 190579); This variant is associated with the following publications: (PMID: 29247119)
Labcorp Genetics (formerly Invitae), Labcorp RCV001224090 SCV001396268 uncertain significance Long QT syndrome 2022-08-22 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 190579). This missense change has been observed in individual(s) with sudden unexplained death (PMID: 29247119). This variant is present in population databases (rs372212045, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 3744 of the ANK2 protein (p.Thr3744Pro).
Ambry Genetics RCV002433733 SCV002751157 benign Cardiovascular phenotype 2021-10-28 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV002485060 SCV002786028 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2021-09-13 criteria provided, single submitter clinical testing

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