ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.4502C>T (p.Pro1501Leu)

gnomAD frequency: 0.00001  dbSNP: rs201071074
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000535901 SCV000627649 uncertain significance Long QT syndrome 2023-02-14 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1501 of the ANK2 protein (p.Pro1501Leu). This variant is present in population databases (rs201071074, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 457038). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Phosphorus, Inc. RCV000578058 SCV000679839 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2017-08-01 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV000578058 SCV002059332 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2019-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330829 SCV002637598 uncertain significance Cardiovascular phenotype 2022-04-09 criteria provided, single submitter clinical testing The c.4502C>T (p.P1501L) 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 4502, causing the proline (P) at amino acid position 1501 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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