ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.2345A>G (p.Gln782Arg)

gnomAD frequency: 0.00001  dbSNP: rs754601230
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001225849 SCV001398143 uncertain significance Long QT syndrome 2022-09-11 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. 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. ClinVar contains an entry for this variant (Variation ID: 953543). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. This variant is present in population databases (rs754601230, gnomAD 0.002%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 782 of the ANK2 protein (p.Gln782Arg).
Ambry Genetics RCV002447132 SCV002734305 uncertain significance Cardiovascular phenotype 2024-01-30 criteria provided, single submitter clinical testing The c.2345A>G (p.Q782R) alteration is located in exon 21 (coding exon 21) of the ANK2 gene. This alteration results from a A to G substitution at nucleotide position 2345, causing the glutamine (Q) at amino acid position 782 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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