Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000054388 | SCV001514397 | uncertain significance | Pulmonary hypertension, primary, 4 | 2020-08-14 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this variant affects KCNK3 protein function (PMID: 23883380, 28889099). This variant has been observed in individual(s) with pulmonary arterial hypertension (PMID: 23883380, 29743074, Invitae). ClinVar contains an entry for this variant (Variation ID: 60482). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 182 of the KCNK3 protein (p.Glu182Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. |
OMIM | RCV000054388 | SCV000082865 | pathogenic | Pulmonary hypertension, primary, 4 | 2013-07-25 | no assertion criteria provided | literature only |