ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.9245C>T (p.Thr3082Ile)

dbSNP: rs770289485
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845350 SCV000987398 uncertain significance Conduction disorder of the heart criteria provided, single submitter clinical testing
Ambry Genetics RCV002372385 SCV002686812 uncertain significance Cardiovascular phenotype 2024-01-03 criteria provided, single submitter clinical testing The c.9245C>T (p.T3082I) alteration is located in exon 38 (coding exon 38) of the ANK2 gene. This alteration results from a C to T substitution at nucleotide position 9245, causing the threonine (T) at amino acid position 3082 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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