ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.744G>A (p.Glu248=)

gnomAD frequency: 0.00037  dbSNP: rs144040058
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000260142 SCV000368933 likely benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319972 SCV000368934 benign Familial hyperaldosteronism type III 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000827914 SCV000969585 likely benign not provided 2020-01-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517162 SCV001725603 benign Long QT syndrome 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379174 SCV002674587 likely benign Cardiovascular phenotype 2018-09-28 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.
Fulgent Genetics, Fulgent Genetics RCV002494950 SCV002807462 likely benign Long QT syndrome 13; Familial hyperaldosteronism type III 2021-08-09 criteria provided, single submitter clinical testing

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