Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001216977 | SCV001388802 | likely benign | Charcot-Marie-Tooth disease type 4 | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002451485 | SCV002615031 | uncertain significance | Inborn genetic diseases | 2020-11-19 | criteria provided, single submitter | clinical testing | The p.H1180N variant (also known as c.3538C>A), located in coding exon 16 of the SH3TC2 gene, results from a C to A substitution at nucleotide position 3538. The histidine at codon 1180 is replaced by asparagine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and asparagine is the reference amino acid in other 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. |