ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.552A>T (p.Ser184=) (rs35225190)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571731 SCV000662023 likely benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Color RCV000571731 SCV000911475 likely benign Hereditary cancer-predisposing syndrome 2017-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000445067 SCV000523785 likely benign not specified 2017-05-26 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 RCV000588903 SCV000696171 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing Variant summary: The MLH1 c.552A>T (p.Ser184Ser) variant causes synonymous change involving a non-conserved nucleotide, which 5/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts alterations to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest has not been observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications, although a clinical diagnostic laboratory classifies the variant as "likely benign." An internal LCA sample reports the variant to co-occur with a likely pathogenic PMS2 variant, c.841G>T (p.Gly281X). Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000205167 SCV000260253 likely benign Hereditary nonpolyposis colon cancer 2017-11-22 criteria provided, single submitter clinical testing

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