ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1170T>C (p.Asp390=) (rs55882234)

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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 RCV000165797 SCV000216544 likely benign Hereditary cancer-predisposing syndrome 2014-09-03 criteria provided, single submitter clinical testing
Color RCV000165797 SCV000685174 likely benign Hereditary cancer-predisposing syndrome 2015-10-09 criteria provided, single submitter clinical testing
Counsyl RCV000662624 SCV000785290 likely benign Hereditary nonpolyposis colorectal cancer type 5 2017-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000602595 SCV000732699 likely benign not specified 2017-06-13 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 RCV000602595 SCV000919733 uncertain significance not specified 2017-12-15 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.1170T>C (p.Asp390Asp) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 5/245840 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.00029 (5/17244). This frequency is about 2 times the estimated maximal expected allele frequency of a pathogenic MSH6 variant (0.0001421), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. The variant has been reported as a confirmed somatic mutation (Furihata_2000), but has not, to our knowledge, been reported in affected individuals as a germline mutation. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000228538 SCV000283705 likely benign Hereditary nonpolyposis colon cancer 2017-12-19 criteria provided, single submitter clinical testing

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