ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.1329C>G (p.Ile443Met) (rs147209278)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics laboratory, University of Goettingen RCV001293386 SCV001481980 uncertain significance Atrial fibrillation, familial, 7 2021-02-26 criteria provided, single submitter clinical testing The KCNA5 variant c.1329C>G (p.(Ile443Met)) is found at a population frequency of 0.00080% in the gnomAD database, it affects a not conserved nucleotide and a highly conserved amino acid within a protein domain and there is a small physicochemical difference between Ile and Met. This variant has a pathogenic computational verdict based on in silico prediction programs (M-CAP, SIFT, PolyPhen-2 & MutationTaster). ACMG criteria used for classification: PM2, PP3.

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