Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000621821 | SCV000738024 | uncertain significance | Cardiovascular phenotype | 2017-05-24 | criteria provided, single submitter | clinical testing | The p.G58V variant (also known as c.173G>T), located in coding exon 1 of the NKX2-5 gene, results from a G to T substitution at nucleotide position 173. The glycine at codon 58 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is well 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. |
Labcorp Genetics |
RCV001038484 | SCV001201954 | likely benign | Atrial septal defect 7 | 2024-01-24 | criteria provided, single submitter | clinical testing |