ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3098T>A (p.Met1033Lys) (rs751035257)

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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 RCV000490990 SCV000580322 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000521749 SCV000618327 uncertain significance not provided 2017-03-10 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.3098T>A at the cDNA level, p.Met1033Lys (M1033K) at the protein level, and results in the change of a Methionine to a Lysine (ATG>AAG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Met1033Lys was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Methionine and Lysine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. MSH6 Met1033Lys occurs at a position that is conserved across species and is located within the Lever domain (Warren 2007, Kansikas 2011). 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 Met1033Lys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Center for Human Genetics, Inc RCV000659893 SCV000781790 likely benign Hereditary nonpolyposis colorectal cancer type 5 2016-11-01 criteria provided, single submitter clinical testing

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