ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2725T>C (p.Leu909=) (rs876659785)

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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 RCV000214189 SCV000276612 likely benign Hereditary cancer-predisposing syndrome 2015-03-07 criteria provided, single submitter clinical testing
Color RCV000214189 SCV000685317 likely benign Hereditary cancer-predisposing syndrome 2017-05-22 criteria provided, single submitter clinical testing
GeneDx RCV000616409 SCV000713971 likely benign not specified 2018-01-30 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 RCV000616409 SCV000917731 uncertain significance not specified 2017-11-09 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.2725T>C (p.Leu909Leu) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant does not alter ESE binding. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/276660 control chromosomes (gnomAD) at a frequency of 0.0000108, which does not exceed the estimated maximal expected allele frequency of a pathogenic MSH6 variant (0.0001421). In addition, multiple clinical diagnostic laboratories classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000230461 SCV000283763 likely benign Hereditary nonpolyposis colon cancer 2017-10-23 criteria provided, single submitter clinical testing

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