ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.87_88del (p.Phe30fs)

dbSNP: rs886039744
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255786 SCV000322697 pathogenic not provided 2016-08-22 criteria provided, single submitter clinical testing The c.87_88delCT pathogenic variant in the EXT2 gene causes a frameshift starting with codon Phenylalanine 30, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Phe30LeufsX25. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Labcorp Genetics (formerly Invitae), Labcorp RCV003603046 SCV004387860 pathogenic Exostoses, multiple, type 2 2024-06-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe30Leufs*25) 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). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with EXT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 265701). For these reasons, this variant has been classified as Pathogenic.

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