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 2024-06-09 criteria provided, single submitter clinical testing 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). This variant is present in population databases (rs372212045, gnomAD 0.02%). This missense change has been observed in individual(s) with sudden unexplained death (PMID: 29247119). ClinVar contains an entry for this variant (Variation ID: 190579). 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.
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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