ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3939_3959dup (p.Gln1314_Ala1320dup) (rs1553333670)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662525 SCV000785086 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2017-04-10 criteria provided, single submitter clinical testing
Invitae RCV000690870 SCV000818599 uncertain significance Hereditary nonpolyposis colon cancer 2018-10-05 criteria provided, single submitter clinical testing This variant, c.3939_3959dup, results in the insertion of 7 amino acids to the MSH6 protein (p.Gln1314_Ala1320dup), but otherwise preserves the integrity of the reading frame. 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 disease. ClinVar contains an entry for this variant (Variation ID: 548737). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acids is currently unknown. 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.
Ambry Genetics RCV001021473 SCV001183095 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-15 criteria provided, single submitter clinical testing Insufficient evidence

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