ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.245dup (p.Asp82fs)

dbSNP: rs1555002460
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000524058 SCV000616712 pathogenic not provided 2017-08-23 criteria provided, single submitter clinical testing The c.245dupA variant in the EXT2 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This duplication causes a frameshift starting with codon Aspartic Acid 82, changes this amino acid to a Glutamic Acid residue and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Asp82GlufsX11. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.245dupA to be pathogenic.
Invitae RCV000793276 SCV000932623 pathogenic Exostoses, multiple, type 2 2018-12-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with EXT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 449018). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp82Glufs*11) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). For these reasons, this variant has been classified as Pathogenic.

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