ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1171C>A (p.Gln391Lys)

gnomAD frequency: 0.00001  dbSNP: rs570580540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154782 SCV003843706 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV004813223 SCV005437118 likely pathogenic Exostoses, multiple, type 2 2024-12-16 criteria provided, single submitter clinical testing a likely pathogenic variant in the EXT2 gene (heterozygous, Gln424Lys). This sequence alteration replaces glutamine, a neutral and polar amino acid, with lysine at codon 424 of the MSH2 protein (p.Gln424Lys). This amino acid position is highly conserved, with a PhyloP score of 7.71.ClinVar includes an entry for this variant (Variation ID: 2445372), which has been classified as likely pathogenic based on a single submission from West China Second University in the context of ovarian cancer. In silico predictions from SIFT and PolyPhen indicate that this variant is likely deleterious.Consequently, we classify this variant as likely pathogenic. The heterozygous mutation in EXT2 is typically associated with multiple exostoses, type 2 (OMIM #133701), which is an autosomal dominant skeletal disorder characterized by the development of multiple benign bone growths (osteochondromas) on the long bones of the limbs.

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