ClinVar Miner

Submissions for variant NM_004982.4(KCNJ8):c.1265C>T (p.Ser422Leu)

gnomAD frequency: 0.00121  dbSNP: rs72554071
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144888 SCV000515511 likely benign not provided 2020-08-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23414114, 23632791, 22562657, 20558321, 22056721, 22840528, 24068186, 24667784, 19120683, 30847666)
Invitae RCV001085300 SCV000636994 likely benign Brugada syndrome 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621636 SCV000736464 benign Cardiovascular phenotype 2017-01-05 criteria provided, single submitter clinical testing This alteration is classified as 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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852667 SCV000995374 likely benign Hypertrophic cardiomyopathy 2017-06-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000144888 SCV004134528 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing KCNJ8: PP2, BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003927417 SCV004738732 benign KCNJ8-related disorder 2019-05-10 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV000144888 SCV000191890 uncertain significance not provided 2014-07-01 no assertion criteria provided literature only

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