ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.628-7C>T (rs373129248)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444664 SCV000527400 likely benign not specified 2017-07-04 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.
Invitae RCV000456404 SCV000561478 likely benign Hereditary nonpolyposis colon cancer 2017-07-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589714 SCV000695920 uncertain significance not provided 2016-05-25 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.628-7C>T variant involves the alteration of a non-conserved intronic nucleotide with 5/5 splice prediction tools predicting no significant impact on splicing and the elimination of an ESE binding site, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC with an allele frequency of 1/117788 (frequency 0.0000085), which does not exceed the estimated maximal expected allele frequency for a pathogenic MSH6 variant of 1/7037 (0.0001421). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Because of the absence of clinical information and the lack of functional studies, the variant has been classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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