ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.655A>G (p.Ile219Val) (rs1799977)

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Total submissions: 24
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030230 SCV000106807 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035355 SCV000059003 benign not specified 2011-08-23 criteria provided, single submitter clinical testing This variant is classified as benign based on its high frequency in the general population (rs1799977, MAF >3%).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000035355 SCV000110268 benign not specified 2014-06-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131385 SCV000186361 benign Hereditary cancer-predisposing syndrome 2014-11-13 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.
Color Health, Inc RCV000131385 SCV000292085 benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035355 SCV000303152 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000614686 SCV000443330 benign Lynch syndrome II 2018-03-06 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 RCV001282867 SCV000604227 benign none provided 2020-08-27 criteria provided, single submitter clinical testing
IntelligeneCG RCV000144603 SCV000611716 benign Lynch syndrome I 2017-08-18 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000614686 SCV000781752 benign Lynch syndrome II 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001083425 SCV000999981 benign Hereditary nonpolyposis colorectal neoplasms 2020-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000034548 SCV001875389 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24595079, 15918206, 30998989, 28932927, 24728327, 27173243, 27153395, 7704024, 27487738, 9032648, 20336543, 23760103, 20981092, 9697702, 24689082, 22753075, 22949387, 21120944, 17594722, 11555625, 19371218, 22283331, 21239990, 11781295, 16083711, 21136174, 20149637, 19665066, 23403630, 16982745, 17510385, 12810663, 18547406, 19863800, 21615986, 23060557, 22703879, 20860725)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034548 SCV000043321 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030230 SCV000052897 benign Lynch syndrome 2011-11-15 no assertion criteria provided clinical testing
ITMI RCV000035355 SCV000085536 not provided not specified 2013-09-19 no assertion provided reference population
Pathway Genomics RCV000144603 SCV000189930 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000035355 SCV000257110 benign not specified no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000035355 SCV000592366 benign not specified no assertion criteria provided clinical testing The p.Ile219Val variant is not expected to have clinical significance because this residue is not well conserved and the variant amino acid Val (valine) at position 219 is present in frog and zebrafish. In addition, this variant is listed in dbSNP as a common polymorphism (dbSNP#:rs1799977).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614686 SCV000734264 benign Lynch syndrome II no assertion criteria provided clinical testing
Center of Medical Genetics and Primary Health Care RCV001269359 SCV001448700 benign Malignant tumor of breast no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000035355 SCV001906103 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000035355 SCV001919475 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000034548 SCV001927690 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000035355 SCV001958956 benign not specified no assertion criteria provided clinical testing

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