ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.1146C>G (p.Ser382Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004993458 SCV005604454 uncertain significance Cardiovascular phenotype 2024-07-06 criteria provided, single submitter clinical testing The p.S382R variant (also known as c.1146C>G), located in coding exon 2 of the KCNJ5 gene, results from a C to G substitution at nucleotide position 1146. The serine at codon 382 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005051512 SCV005676501 uncertain significance Long QT syndrome 13; Familial hyperaldosteronism type III 2024-01-30 criteria provided, single submitter clinical testing

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