ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.1227G>C (p.Leu409=)

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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 RCV002366767 SCV002664543 uncertain significance Cardiovascular phenotype 2020-11-17 criteria provided, single submitter clinical testing The c.1227G>C variant (also known as p.L409L), located in coding exon 2 of the KCNJ5 gene, results from a G to C substitution at nucleotide position 1227. This nucleotide substitution does not change the leucine at codon 409. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003098316 SCV003275360 likely benign Long QT syndrome 2023-01-23 criteria provided, single submitter clinical testing

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