ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.4053_4081dup (p.Ter1361Leufs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491731 SCV000580103 likely pathogenic Hereditary cancer-predisposing syndrome 2019-02-28 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV001040497 SCV001204075 uncertain significance Hereditary nonpolyposis colon cancer 2019-02-23 criteria provided, single submitter clinical testing This variant, c.4053_4081dup, disrupts the translational stop signal of MSH6 and is expected to extend the length of the protein by 3 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 428289). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000491731 SCV001348566 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-17 criteria provided, single submitter clinical testing

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