ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.938-4C>T

gnomAD frequency: 0.00001  dbSNP: rs753186315
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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 RCV002099112 SCV002440047 likely benign Long QT syndrome 2022-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372972 SCV002684950 uncertain significance Cardiovascular phenotype 2019-09-26 criteria provided, single submitter clinical testing The c.938-4C>T intronic variant results from a C to T substitution 4 nucleotides upstream from coding exon 2 in the KCNJ5 gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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