ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3del (p.Met1fs) (rs1553408068)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530042 SCV000624956 uncertain significance Hereditary nonpolyposis colon cancer 2017-06-09 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 1 of the MSH6 mRNA (c.3delG), affecting the initiator methionine. While this variant may disrupt protein translation of the MSH6 mRNA, an alternate in-frame methionine downstream of the original initiator codon located at codon 100 could potentially rescue translation initiation. However, experimental studies have not been performed to determine if an alternative initiator codon is utilized. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a MSH6-related disease. 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.
Ambry Genetics RCV001021626 SCV001183266 pathogenic Hereditary cancer-predisposing syndrome 2018-03-29 criteria provided, single submitter clinical testing Other acmg-defined mutation (i.e. initiation codon or gross deletion);Well-characterized mutation at same position

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