Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205121 | SCV000260890 | likely benign | Gorlin syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764837 | SCV000895993 | uncertain significance | Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001021739 | SCV001183390 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-02 | criteria provided, single submitter | clinical testing | The p.N1348S variant (also known as c.4043A>G), located in coding exon 23 of the PTCH1 gene, results from an A to G substitution at nucleotide position 4043. The asparagine at codon 1348 is replaced by serine, an amino acid with highly similar properties. This amino acid position is not 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. |