Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002231884 | SCV000647314 | uncertain significance | Familial adenomatous polyposis 1 | 2023-10-26 | criteria provided, single submitter | clinical testing | This variant occurs in a non-coding region of the APC gene. It does not change the encoded amino acid sequence of the APC protein. This variant is present in population databases (rs189807660, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 469802). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Fulgent Genetics, |
RCV000764558 | SCV000895646 | uncertain significance | Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma | 2018-10-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003736809 | SCV004562443 | uncertain significance | not provided | 2023-09-08 | criteria provided, single submitter | clinical testing | The APC c.1A>G; p.Met1? variant (rs189807660) in transcript NM_001127511.3, also known as c.-30226A>G in transcript NM_000038.6, is not reported in the medical literature, to our knowledge, but is reported in ClinVar (Variation ID: 469802). This variant is found in the general population with an overall allele frequency of 0.005% (8/166,732 alleles) in the Genome Aggregation Database. This variant abolishes a translation initiation site in an alternate transcript of APC; however, no variants in this codon or the canonical initiation codon in transcript NM_000038.6 have been reported in affected individuals. Due to limited information, the clinical significance of this variant is uncertain at this time. |