ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7574G>A (p.Arg2525His) (rs762034315)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164075 SCV000214685 likely benign Hereditary cancer-predisposing syndrome 2020-09-14 criteria provided, single submitter clinical testing Other data supporting benign classification;Subpopulation frequency in support of benign classification
Invitae RCV000226636 SCV000282826 likely benign Familial adenomatous polyposis 1 2020-12-03 criteria provided, single submitter clinical testing
Counsyl RCV000226636 SCV000488429 uncertain significance Familial adenomatous polyposis 1 2016-03-24 criteria provided, single submitter clinical testing
GeneDx RCV000483633 SCV000567924 uncertain significance not provided 2017-10-03 criteria provided, single submitter clinical testing This variant is denoted APC c.7574G>A at the cDNA level, p.Arg2525His (R2525H) at the protein level, and results in the change of an Arginine to a Histidine (CGC>CAC). This variant was reported in an individual with endometrial cancer undergoing multigene hereditary cancer testing (Ring 2016). APC Arg2525His was observed at an allele frequency of 0.06% (21/34,404) in individuals of Latino ancestry in large population cohorts (Lek 2016). Since Arginine and Histidine share similar properties, this is considered a conservative amino acid substitution. APC Arg2525His occurs at a position that is conserved in mammals and is not located in a known functional domain. In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether APC Arg2525His is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color Health, Inc RCV000164075 SCV000681878 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000483633 SCV001470120 likely benign not provided 2019-11-20 criteria provided, single submitter clinical testing

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