ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3111C>A (p.Phe1037Leu) (rs587781673)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129832 SCV000184648 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-17 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
GeneDx RCV000221076 SCV000279528 uncertain significance not provided 2015-10-30 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.3111C>A at the cDNA level, p.Phe1037Leu (F1037L) at the protein level, and results in the change of a Phenylalanine to a Leucine (TTC>TTA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Phe1037Leu was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Phenylalanine and Leucine share similar properties, this is considered a conservative amino acid substitution. MSH6 Phe1037Leu occurs at a position that is conserved across species and is located in MutS domain III (Terui 2013). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether MSH6 Phe1037Leu is pathogenic or benign. We consider it to be a variant of uncertain significance.
Counsyl RCV000410297 SCV000489155 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2016-08-29 criteria provided, single submitter clinical testing

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