ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3988C>T (p.Leu1330=) (rs768944975)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574677 SCV000673961 likely benign Hereditary cancer-predisposing syndrome 2016-11-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000574677 SCV000904028 likely benign Hereditary cancer-predisposing syndrome 2017-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000478567 SCV000565753 uncertain significance not provided 2016-06-10 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.3988C>T at the DNA level. This variant is silent at the coding level, preserving a Leucine at codon 1330. In silico splicing models are uninformative. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. MSH6 c.3988C>T was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The nucleotide which is altered, a cytosine (C) at base 3988, is not conserved. Based on currently available information, it is unclear whether MSH6 c.3988C>T is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000229058 SCV000283834 likely benign Hereditary nonpolyposis colon cancer 2018-01-03 criteria provided, single submitter clinical testing

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