ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1201C>T (p.Gln401Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA 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).

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