Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000692609 | SCV000820440 | likely benign | Hereditary sensory neuropathy-deafness-dementia syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442450 | SCV002733981 | uncertain significance | Inborn genetic diseases | 2020-01-29 | criteria provided, single submitter | clinical testing | The p.G77S variant (also known as c.229G>A), located in coding exon 4 of the DNMT1 gene, results from a G to A substitution at nucleotide position 229. The glycine at codon 77 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |