ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.3623A>C (p.Lys1208Thr)

gnomAD frequency: 0.00004  dbSNP: rs375594801
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766400 SCV000223289 uncertain significance not provided 2013-05-24 criteria provided, single submitter clinical testing p.Lys1208Thr (AAG>ACG): c.3623 A>C in exon 31 of the ANK2 gene (NM_001148.4). The Lys1208Thr variant in the ANK2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Lys1208Thr results in a non-conservative amino acid substitution of a positively charged Lysine residue with a neutral, polar Threonine residue at a position that is conserved across species. The Lys1208Thr variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. However, no mutations affecting nearby residues have been reported in association with LQTS, suggesting this region of the protein may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if Lys1208Thr is a disease-causing mutation or a rare benign variant. The variant is found in LQT panel(s).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000170736 SCV000602494 uncertain significance not specified 2016-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492698 SCV002792794 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2021-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298198 SCV003995306 uncertain significance Cardiovascular phenotype 2024-04-15 criteria provided, single submitter clinical testing The c.3623A>C (p.K1208T) alteration is located in exon 31 (coding exon 31) of the ANK2 gene. This alteration results from a A to C substitution at nucleotide position 3623, causing the lysine (K) at amino acid position 1208 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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