ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2025G>C (p.Glu675Asp) (rs587779223)

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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 RCV000219265 SCV000276605 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000541319 SCV000624716 uncertain significance Hereditary nonpolyposis colon cancer 2018-07-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 675 of the MSH6 protein (p.Glu675Asp). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual with colorectal cancer in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 89239). An algorithm developed specifically for the MSH6 gene (PMID: 23621914), suggests that this missense change is likely to be tolerated. However, this prediction has not been confirmed by published functional studies and its clinical significance is uncertain. 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.
Counsyl RCV000662844 SCV000785704 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2017-11-07 criteria provided, single submitter clinical testing

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