ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.702G>A (p.Glu234=) (rs35908749)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000126773 SCV000212846 likely benign Hereditary cancer-predisposing syndrome 2014-08-01 criteria provided, single submitter clinical testing
Color RCV000126773 SCV000537423 likely benign Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000212521 SCV000170291 benign not specified 2014-01-23 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.
Integrated Genetics/Laboratory Corporation of America RCV000030231 SCV000052898 likely benign Lynch syndrome 2015-10-02 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588685 SCV000696177 likely benign not provided 2016-05-03 criteria provided, single submitter clinical testing Variant summary: This synonymous variant is located 25 nts downstream of intron-exon junction in coding region. 3/5 splice-site tools predict the variant not to have effect on splicing and two independent functional studies showed that this variant does not have effect on normal splicing (Borras et al 2012 and Thompson et al 2013). This variant has been reported in multiple HNPCC patients mostly of European origin, albeit some of them did not fulfilling Amsterdam criteria for HNPCC diagnosis. In one patient, another variant that could explain the phenotype was also detected. The variant was found at a frequency of 0.0392% in the general population (47/119650 chromosomes), clustered mainly in the population of European origin with no homozygous occurrence. This frequency in general population is lower than the maximal expected allele frequency (0.07%) for pathogenic MLH1 variant. Lastly, reputable databases and diagnostic centers classify the variant as likely benign/benign/neutral. Taken together, this variant has been classified as likely benign.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030231 SCV000106840 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Synonymous substitution with no splicing aberration, treated with NMD inhibitor
Invitae RCV000524314 SCV000253142 benign Hereditary nonpolyposis colon cancer 2018-01-05 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000212521 SCV000691850 likely benign not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000126773 SCV000886686 likely benign Hereditary cancer-predisposing syndrome 2018-10-04 no assertion criteria provided clinical testing

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