Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001210015 | SCV001381478 | pathogenic | Long QT syndrome | 2019-08-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly151 amino acid residue in KCNJ5. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22308486, 24819081). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been reported to affect KCNJ5 protein function (PMID: 22203740, 22308486). This variant has been observed to segregate with hyperaldosteronism in families (PMID: 22203740, 22308486). ClinVar contains an entry for this variant (Variation ID: 135679). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 151 of the KCNJ5 protein (p.Gly151Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. |
OMIM | RCV000122751 | SCV000166008 | pathogenic | Familial hyperaldosteronism type III | 2012-02-14 | no assertion criteria provided | literature only |