ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.1133A>C (p.Gln378Pro)

gnomAD frequency: 0.00001  dbSNP: rs544093099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002539046 SCV001011004 benign Long QT syndrome 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442845 SCV002611882 uncertain significance Cardiovascular phenotype 2022-07-05 criteria provided, single submitter clinical testing The p.Q378P variant (also known as c.1133A>C), located in coding exon 2 of the KCNJ5 gene, results from an A to C substitution at nucleotide position 1133. The glutamine at codon 378 is replaced by proline, an amino acid with similar properties. This alteration has been reported in a sudden unexplained death cohort (Shanks GW et al. Circ Cardiovasc Genet, 2017 Oct;10:[ePub ahead of print]). 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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