ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.33C>G (p.Phe11Leu) (rs747802641)

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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 RCV000166008 SCV000216767 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Color RCV000166008 SCV000690350 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-20 criteria provided, single submitter clinical testing
GeneDx RCV000679237 SCV000279089 uncertain significance not provided 2018-10-09 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.33C>G at the cDNA level, p.Phe11Leu (F11L) at the protein level, and results in the change of a Phenylalanine to a Leucine (TTC>TTG). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. MSH6 Phe11Leu was observed at an allele frequency of 0.10% (33/33424) in individuals of Latino ancestry in large population cohorts (Lek 2016). This variant is located in the PCNA-binding motif (Kariola 2002, Kansikas 2011). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether MSH6 Phe11Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000539310 SCV000624857 likely benign Hereditary nonpolyposis colon cancer 2017-11-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679237 SCV000805888 uncertain significance not provided 2017-11-13 criteria provided, single submitter clinical testing

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