ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.206A>G (p.Lys69Arg) (rs149338401)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000119074 SCV000055216 likely benign not provided 2013-06-24 criteria provided, single submitter research
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000119074 SCV000153793 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:14661677).
GeneDx RCV000119074 SCV000618162 uncertain significance not provided 2018-07-25 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNE1 gene. The K69R variant has been reported in one apparently healthy African American individual (Ackerman et al., 2003), and one individual from a cohort of individuals not selected for a history of cardiomyopathy, arrhythmia or family history of sudden cardiac death, who underwent exome sequencing (Ng et al., 2013). However, follow-up cardiac evaluations for these published cases were not reported. The K69R variant has also been observed in two other individuals referred for LQTS genetic testing at GeneDx, although both individuals harbored a second variant in a different gene and no segregation data are available. The K69R variant is also observed in 15/24024 (0.06%) alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016). The K69R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.

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