Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001060530 | SCV001225224 | uncertain significance | Multiple congenital exostosis | 2023-01-07 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Asp231 amino acid residue in EXT1. Other variant(s) that disrupt this residue have been observed in individuals with EXT1-related conditions (PMID: 23439489), which suggests that this may be a clinically significant amino acid residue. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 855294). This variant has been observed in individual(s) with multiple exostoses (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.692_694del, results in the deletion of 1 amino acid(s) of the EXT1 protein (p.Asp231del), but otherwise preserves the integrity of the reading frame. |