ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3807C>T (p.Cys1269=) (rs747924946)

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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 RCV000221124 SCV000277456 likely benign Hereditary cancer-predisposing syndrome 2015-07-18 criteria provided, single submitter clinical testing
Invitae RCV000459648 SCV000551131 uncertain significance Hereditary nonpolyposis colon cancer 2017-06-09 criteria provided, single submitter clinical testing This sequence change affects codon 1269 of the MSH6 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MSH6 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a MSH6-related disease. ClinVar contains an entry for this variant (Variation ID: 233143). 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, this variant has uncertain impact on MSH6 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000221124 SCV000690409 likely benign Hereditary cancer-predisposing syndrome 2016-12-06 criteria provided, single submitter clinical testing

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