ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.11225C>T (p.Pro3742Leu)

gnomAD frequency: 0.00002  dbSNP: rs753748906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001371643 SCV001568215 uncertain significance Long QT syndrome 2023-08-04 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ANK2 protein function. ClinVar contains an entry for this variant (Variation ID: 1061975). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. This variant is present in population databases (rs753748906, gnomAD 0.005%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3742 of the ANK2 protein (p.Pro3742Leu). 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 RCV002438868 SCV002750135 uncertain significance Cardiovascular phenotype 2023-03-18 criteria provided, single submitter clinical testing The p.P3742L variant (also known as c.11225C>T), located in coding exon 42 of the ANK2 gene, results from a C to T substitution at nucleotide position 11225. The proline at codon 3742 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002476697 SCV002800709 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2021-10-07 criteria provided, single submitter clinical testing

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