ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.4777G>T (p.Val1593Phe)

gnomAD frequency: 0.00002  dbSNP: rs771802296
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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 RCV001977263 SCV002262992 uncertain significance Long QT syndrome 2021-05-31 criteria provided, single submitter clinical testing 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with sudden arrhythmogenic death syndrome (PMID: 27005929) and autism spectrum disorder (PMID: 30564305). This variant is present in population databases (rs771802296, ExAC 0.03%). This sequence change replaces valine with phenylalanine at codon 1593 of the ANK2 protein (p.Val1593Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine.
Ambry Genetics RCV002334993 SCV002634731 likely benign Cardiovascular phenotype 2019-03-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV003434375 SCV004148732 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing ANK2: BP4, BS2

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