ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.843A>C (p.Ala281=) (rs146796765)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000160556 SCV000212895 likely benign Hereditary cancer-predisposing syndrome 2014-07-25 criteria provided, single submitter clinical testing
Color RCV000160556 SCV000537426 likely benign Hereditary cancer-predisposing syndrome 2015-05-05 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000212527 SCV000592383 likely benign not specified 2013-08-12 criteria provided, single submitter clinical testing
GeneDx RCV000212527 SCV000211134 benign not specified 2014-07-11 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 RCV000586205 SCV000696184 likely benign not provided 2017-08-09 criteria provided, single submitter clinical testing Variant summary: The MLH1 c.843A>C (p.Ala281Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 12/121410 control chromosomes at a frequency of 0.0000988, which does not exceed the estimated maximal expected allele frequency of a pathogenic MLH1 variant (0.0007105). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as likely benign.
Invitae RCV000196784 SCV000253147 likely benign Hereditary nonpolyposis colon cancer 2017-12-13 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000212527 SCV000691851 likely benign not specified no assertion criteria provided clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212527 SCV000601413 likely benign not specified 2017-01-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586205 SCV000889405 likely benign not provided 2018-06-04 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000160556 SCV000788027 likely benign Hereditary cancer-predisposing syndrome 2017-10-16 no assertion criteria provided clinical testing

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