Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
St. |
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.? |