ClinVar Miner

Submissions for variant NM_000038.6(APC):c.277C>G (p.Leu93Val) (rs201567345)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233150 SCV000282725 likely benign Familial adenomatous polyposis 1 2020-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000657055 SCV000567833 uncertain significance not provided 2018-05-09 criteria provided, single submitter clinical testing This variant is denoted APC c.277C>G at the cDNA level, p.Leu93Val (L93V) at the protein level, and results in the change of a Leucine to a Valine (CTC>GTC). This variant has been observed in at least one individual with a Lynch syndrome-associated cancer and/or colorectal polyps and in an individual with pancreatic cancer (Grant 2015, Yurgelun 2015). APC Leu93Val was observed at an allele frequency of 0.0165% (11/66712 alleles) in individuals of European (Non-Finnish) ancestry in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). APC Leu93Val occurs at a position where amino acids with properties similar to Leucine are tolerated across species and is not located in a known functional domain. In silico analyses are inconsistent regarding the effect this variant may have on protein structure or function. Based on currently available evidence, it is unclear whether APC Leu93Val is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000491761 SCV000579800 benign Hereditary cancer-predisposing syndrome 2015-08-19 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign);Other data supporting benign classification
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000657055 SCV000600064 uncertain significance not provided 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000233150 SCV000784803 uncertain significance Familial adenomatous polyposis 1 2017-01-06 criteria provided, single submitter clinical testing
Color Health, Inc RCV000491761 SCV000910848 likely benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing

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