ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.172_177dup (p.Arg58_Pro59dup) (rs876661161)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213272 SCV000279689 uncertain significance not provided 2015-12-15 criteria provided, single submitter clinical testing This in-frame duplication of 6 nucleotides in MSH6 is denoted c.172_177dupAGGCCC at the cDNA level and p.Arg58_Pro59dup (R58_P59dup) at the protein level. The normal sequence, with the bases that are duplicated in braces, is AGGCCC{AGGCCC}TTGG. This duplication occurs in a region which is not conserved and is not located in a known functional domain (Terui 2013). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame duplications may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider MSH6 Arg58_Pro59dup to be a variant of uncertain significance.
Ambry Genetics RCV000572726 SCV000670020 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-08 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000803974 SCV000943863 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-07-03 criteria provided, single submitter clinical testing This variant, c.172_177dupAGGCCC, results in the insertion of 2 amino acid(s) to the MSH6 protein (p.Arg58_Pro59dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with MSH6-related disease. ClinVar contains an entry for this variant (Variation ID: 234685). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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.

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