Submissions for variant NM_001127511.3(APC):c.-193G>A

gnomAD frequency: 0.00001  dbSNP: rs1750570441

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001180770	SCV001345772	uncertain significance	Hereditary cancer-predisposing syndrome	2020-02-04	criteria provided, single submitter	clinical testing	This variant is located in the 5' upstream regulatory region of the APC gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer 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.
Invitae	RCV002558969	SCV001559157	uncertain significance	Familial adenomatous polyposis 1	2023-07-17	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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with APC-related conditions. 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.