Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000409487 | SCV003836610 | uncertain significance | Familial adenomatous polyposis 1 | 2023-02-26 | reviewed by expert panel | curation | The c.6796_6810del variant is predicted to cause a change in the length of the protein due to an in-frame deletion of 5 amino acids (p.Thr2266_Ser2270del). This variant has been observed in 3 heterozygous individuals over the age of 50 with no features of FAP or family history of FAP, which is worth 3 healthy individual points (BS2_Supporting; Invitae internal data). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). Due to insufficient evidence, this variant is classified as a Variant of Uncertain Significance (VUS) for FAP based on the ACMG/AMP criteria applied, as specified by the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel: BS2_Supporting and PM2_Supporting (VCEP specifications version 1; date of approval: 12/12/2022). |
Counsyl | RCV000409487 | SCV000488682 | uncertain significance | Familial adenomatous polyposis 1 | 2016-05-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000409487 | SCV000647669 | uncertain significance | Familial adenomatous polyposis 1 | 2022-03-31 | 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. 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: 371858). 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 variant, c.6796_6810del, results in the deletion of 5 amino acid(s) of the APC protein (p.Thr2266_Ser2270del), but otherwise preserves the integrity of the reading frame. |
Myriad Genetics, |
RCV000409487 | SCV004018396 | uncertain significance | Familial adenomatous polyposis 1 | 2023-02-14 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |
Ambry Genetics | RCV003343801 | SCV004059090 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-09-02 | criteria provided, single submitter | clinical testing | The c.6796_6810del15 variant (also known as p.T2266_S2270del) is located in coding exon 15 of the APC gene. This variant results from an in-frame deletion of 15 nucleotides at nucleotide positions 6796 to 6810. This results in the in-frame deletion of 5 amino acids at codons 2266 to 2270. This amino acid region is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |