ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3605T>C (p.Met1202Thr) (rs587779273)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129370 SCV000184134 likely benign Hereditary cancer-predisposing syndrome 2018-06-26 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
GeneDx RCV000212685 SCV000211323 uncertain significance not provided 2017-10-06 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.3605T>C at the cDNA level, p.Met1202Thr (M1202T) at the protein level, and results in the change of a Methionine to a Threonine (ATG>ACG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Met1202Thr was not observed at a significant allele frequency in large population cohorts (Lek 2016). Since Methionine and Threonine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. MSH6 Met1202Thr occurs at a position that is not conserved and is located in the ATPase domain (Warren 2007, Kansikas 2011). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether MSH6 Met1202Thr is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000524181 SCV000261076 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000129370 SCV000690379 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-07 criteria provided, single submitter clinical testing
Counsyl RCV000662842 SCV000785702 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2017-11-08 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764434 SCV000895491 uncertain significance Endometrial carcinoma; Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 5 2018-10-31 criteria provided, single submitter clinical testing

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