Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000236244 | SCV000293626 | uncertain significance | not provided | 2015-11-27 | criteria provided, single submitter | clinical testing | This in-frame deletion of 4 nucleotides and insertion of one in APC is denoted c.315_318delCCGTinsA at the cDNA level and p.Ser105del (S105del) at the protein level. The normal sequence, with the bases that are deleted in braces, is CAAG[CCGT][A]TCTG. This deletion of a single Serine residue occurs at a position that is conserved across species and is not located in a known functional domain (Azzopardi 2008). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider APC Ser105del to be a variant of uncertain significance. |
Color Diagnostics, |
RCV003584582 | SCV004356701 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-08 | criteria provided, single submitter | clinical testing | This variant causes a deletion of 4 nucleotides and insertion of 1 new nucleotide, resulting in the in-frame deletion of a Serine in the APC protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with APC-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |