Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531720 | SCV000640041 | uncertain significance | Oculofaciocardiodental syndrome | 2023-07-17 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with BCOR-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 421 of the BCOR protein (p.Gly421Ser). ClinVar contains an entry for this variant (Variation ID: 465152). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. |