ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1778del (p.Val593fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003325290 SCV004031228 likely pathogenic Exostoses, multiple, type 2 2023-07-11 criteria provided, single submitter clinical testing The EXT2 c.1877del (p.Val626GlyfsTer28) change deletes one nucleotide to cause a frameshift and the creation of a premature stop codon. This change is predicted to cause protein truncation or absence of protein due to nonsense-mediated decay. To our knowledge, this variant has not been reported in individuals with hereditary multiple exostoses. This variant is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). Of note, this variant corresponds to NM_207122.2: c.1778del (p.Val593Glyfs*28) in the MANE select transcript. In summary, this variant meets criteria to be classified as likely pathogenic.?

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