ClinVar Miner

Submissions for variant NM_012222.2(MUTYH):c.1535C>T (p.Ser512Phe) (rs140118273)

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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119200 SCV000153941 benign MYH-associated polyposis 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000121601 SCV000170417 benign not specified 2013-10-18 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 RCV000132436 SCV000187530 benign Hereditary cancer-predisposing syndrome 2014-06-20 criteria provided, single submitter clinical testing This alteration is classified as 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000121601 SCV000226447 benign not specified 2014-07-16 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000119200 SCV000257795 likely benign MYH-associated polyposis 2015-04-14 criteria provided, single submitter clinical testing
Vantari Genetics RCV000132436 SCV000267059 benign Hereditary cancer-predisposing syndrome 2015-12-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121601 SCV000306735 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282616 SCV000604311 benign none provided 2020-06-23 criteria provided, single submitter clinical testing
Color Health, Inc RCV000132436 SCV000685593 benign Hereditary cancer-predisposing syndrome 2015-03-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000121601 SCV000889526 benign not specified 2020-09-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119200 SCV001257602 likely benign MYH-associated polyposis 2018-01-12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034672 SCV000043366 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000121601 SCV000085798 not provided not specified 2013-09-19 no assertion provided reference population
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001270289 SCV000592721 benign Familial multiple polyposis syndrome no assertion criteria provided clinical testing This variant is not expected to have clinical significance because it does not occur at a conserved amino acid residue, is not located near a splice junction, is listed in dbSNP (rs140118273), and is reported as benign in multiple publications.
Mayo Clinic Laboratories, Mayo Clinic RCV000121601 SCV000691945 benign not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000132436 SCV000788066 benign Hereditary cancer-predisposing syndrome 2018-02-20 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000121601 SCV001742507 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000121601 SCV001797866 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000121601 SCV001808638 benign not specified no assertion criteria provided clinical testing

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