Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004570451 | SCV001380816 | uncertain significance | Familial adenomatous polyposis 1 | 2023-08-30 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 939904). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 652 of the APC protein (p.His652Gln). |
| Ambry Genetics | RCV002418708 | SCV002718826 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | The p.H652Q variant (also known as c.1956C>G), located in coding exon 14 of the APC gene, results from a C to G substitution at nucleotide position 1956. The histidine at codon 652 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |