ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.927C>T (p.Pro309=) (rs63749896)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219267 SCV000275915 likely benign Hereditary cancer-predisposing syndrome 2015-06-02 criteria provided, single submitter clinical testing
Color RCV000219267 SCV000689931 likely benign Hereditary cancer-predisposing syndrome 2016-08-06 criteria provided, single submitter clinical testing
Counsyl RCV000663231 SCV000786433 likely benign Lynch syndrome II 2018-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000436654 SCV000523810 likely benign not specified 2017-08-08 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 RCV000586559 SCV000696190 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing Variant summary: The MLH1 c.927C>T (p.Pro309Pro) 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. 5/5 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 4/121408 control chromosomes at a frequency of 0.0000329, which does not exceed the estimated maximal expected allele frequency of a pathogenic MLH1 variant (0.0007105). This variant has been reported in multiple patients without strong evidence supporting causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance/likely benign. Taken together, this variant is classified as VUS-possibly benign.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075938 SCV000106954 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
Invitae RCV000524322 SCV000260131 likely benign Hereditary nonpolyposis colon cancer 2017-12-19 criteria provided, single submitter clinical testing

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