ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3969_4001+52dup (rs1553333718)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204672 SCV000260127 uncertain significance Lynch syndrome 2015-08-25 criteria provided, single submitter clinical testing This sequence change is a tandem duplication of 85 nucleotides in exon 9 of the MSH6 mRNA (c.3969_4001+52dup). This duplication includes the 3' end of exon 9. The impact of this duplication on both MSH6 mRNA processing and protein function is unknown. This variant is not present in population databases and has not been reported in the literature. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that while this duplication is not predicted to alter the consensus splice site in intron 9, it is predicted to create 2 novel splice sites downstream of the consensus splice site that if used, will create premature translation stop codon that resulting in a truncated MSH6 protein. In the absence of transcriptional studies, it is not known if these additional site actually impact MSH6 mRNA. In summary, this is a novel variant with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Color RCV000771271 SCV000903402 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-04 criteria provided, single submitter clinical testing

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