ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2646T>C (p.Phe882=) (rs1190330045)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777150 SCV000912839 likely benign Hereditary cancer-predisposing syndrome 2017-12-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590495 SCV000695823 uncertain significance not provided 2017-07-27 criteria provided, single submitter clinical testing Variant summary: The c.2646T>C (p.Phe882=) in MSH6 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is absent form control dataset of ExAC (0/120420), but is present in gnomAD at a low frequency of 0.00006 (2/30984 chrs tested, respectively) exclusively in individuals of European ancestry (0.00013; 2/15012 chrs tested). The individual frequency is similar to the estimated maximum allele frequency for a pathogenic allele in this gene (0.00014). The variant of interest has not, to our knowledge, been reported in affected individuals via published reports, but is cited as VUS by a reputable database/clinical laboratory. Taking together, the variant was classified as VUS-Possible Benign.

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