Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Molecular Pathology, |
RCV002466890 | SCV002761759 | pathogenic | Exostoses, multiple, type 2 | 2021-10-18 | criteria provided, single submitter | clinical testing | The EXT2 c.1201C>T variant is classified as a PATHOGENIC variant (PVS1, PM2, PP4) This variant is a single nucleotide change from a cytosine to a thymine at position 1201 which is predicted to result in premature termination of the protein product at codon 401 (PVS1). The variant is in exon 8/14 of the EXT2 gene. The variant has been previously reported as a de novo mutation in a patient with Heriditary multiple exostoses (PMID: 9326317). This variant has not been reported in dbSNP and is absent from population databases (PM2). This variant has not been reported in ClinVar, but it is presented in HGMD as a disease causing variant (Accession: CM970454). The clinical features of this patient are highly specific for the EXT2 gene (PP4). |