Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000617665 | SCV000738073 | uncertain significance | Cardiovascular phenotype | 2023-09-28 | criteria provided, single submitter | clinical testing | The p.R549C variant (also known as c.1645C>T), located in coding exon 6 of the KCND3 gene, results from a C to T substitution at nucleotide position 1645. The arginine at codon 549 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV002510932 | SCV002820817 | uncertain significance | not provided | 2022-07-13 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Duke University Health System Sequencing Clinic, |
RCV003223411 | SCV003919003 | likely pathogenic | Neurodevelopmental delay | 2023-04-20 | criteria provided, single submitter | research |