ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3557-7_3557-4delTTTT (rs267608102)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483647 SCV000567512 likely benign not specified 2017-06-27 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 RCV000589471 SCV000695874 uncertain significance not provided 2016-10-21 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.3557-7_3557-4delTTTT variant involves the deletion of multiple non-conserved intronic nucleotides. One in silico tool predicts a benign 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 2/90548 control chromosomes at a frequency of 0.0000221, which does not exceed the estimated maximal expected allele frequency of a pathogenic MSH6 variant (0.0001421). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable clinical diagnostic laboratories. The variant has been cited by one database with a classification of "UV." Because of the absence of clinical information and the lack of functional studies, the variant is classified as a Variant of Uncertain Significance (VUS), until additional information becomes available.

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