ClinVar Miner

Submissions for variant NM_001167617.2(MLH1):c.1206_1208del (p.Ile403del) (rs587778920)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550597 SCV000625074 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-11-25 criteria provided, single submitter clinical testing This variant, c.1500_1502delCAT, results in the deletion of 1 amino acid of the MLH1 protein (p.Ile501del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs753409799, ExAC 0.009%). This variant has been observed in an individual affected with suspected Lynch syndrome (PMID: 12095971, 28874130, 29520894). This variant is also known as c.1499-1501delTCA in the literature. ClinVar contains an entry for this variant (Variation ID: 89755). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659872 SCV000781757 pathogenic Lynch syndrome II 2016-11-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679268 SCV000805950 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing
Mendelics RCV000075229 SCV000838019 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000659872 SCV001136415 uncertain significance Lynch syndrome II 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011893 SCV001172275 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-17 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV001011893 SCV001357024 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-13 criteria provided, single submitter clinical testing

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