Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035079 | SCV000058719 | uncertain significance | not specified | 2012-04-24 | criteria provided, single submitter | clinical testing | The Arg1882Thr variant (APC) has been reported in 0.5% (1/198) of chromosomes fr om a broad, though clinically and racially unspecified population and in 2.1% (1 /48) of African American chromosomes (dbSNP rs34157245). This cohort is too smal l to confidently exclude a disease causing role. Computational analyses (biochem ical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, ad ditional studies are needed to fully assess the clinical significance of this va riant. |
Invitae | RCV003764659 | SCV001538636 | uncertain significance | Familial adenomatous polyposis 1 | 2022-06-29 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 42246). 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 arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 1882 of the APC protein (p.Arg1882Thr). |