ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.196C>T (p.Pro66Ser)

gnomAD frequency: 0.00010  dbSNP: rs368699451
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824001 SCV000964876 uncertain significance Atrial fibrillation, familial, 7 2023-02-22 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 66 of the KCNA5 protein (p.Pro66Ser). This variant is present in population databases (rs368699451, gnomAD 0.02%). This missense change has been observed in individual(s) with atrioventricular nodal reentry tachycardia (PMID: 32508047). ClinVar contains an entry for this variant (Variation ID: 665674). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV001772143 SCV002002882 uncertain significance not provided 2022-11-04 criteria provided, single submitter clinical testing Reported in association with atrioventricular nodal reentry tachycardia in published literature (Luo et al., 2020); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32508047)
Fulgent Genetics, Fulgent Genetics RCV000824001 SCV002816059 uncertain significance Atrial fibrillation, familial, 7 2021-08-20 criteria provided, single submitter clinical testing

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