ClinVar Miner

Submissions for variant NM_000038.6(APC):c.705A>G (p.Leu235=) (rs147036141)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000077993 SCV000109830 benign not specified 2012-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000077993 SCV000167020 benign not specified 2014-01-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000123677 SCV000212748 likely benign Hereditary cancer-predisposing syndrome 2014-07-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001082441 SCV000252593 benign Familial adenomatous polyposis 1 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276575 SCV000451985 benign APC-Associated Polyposis Disorders 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000077993 SCV000602537 benign not specified 2019-06-11 criteria provided, single submitter clinical testing
Color Health, Inc RCV000123677 SCV000681844 benign Hereditary cancer-predisposing syndrome 2016-03-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679083 SCV000805461 likely benign not provided 2017-02-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000077993 SCV000257028 benign not specified no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353583 SCV000591049 benign Carcinoma of colon no assertion criteria provided clinical testing The p.Leu235Leu variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction. It has been reported in the UMD (x1) and LOVD (x2) databases. In addition, it is observed as a low frequency variant in the ESP cohort, increasing the likelihood this variant does not have clinical significance. In summary, based on the above information, this variant is predicted benign.
True Health Diagnostics RCV000123677 SCV000693488 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000077993 SCV001743904 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000679083 SCV001798801 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000679083 SCV001808210 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000077993 SCV001921686 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000679083 SCV001951960 likely benign not provided no assertion criteria provided clinical testing

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