ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.4081_4082del (p.Ter1361AspextTer?)

dbSNP: rs863224830
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196781 SCV000255265 uncertain significance Lynch syndrome 2015-04-22 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotide from exon 10 of the MSH6 mRNA (c.4079_4080delTA). This deletion disrupts the translational stop signal of the MSH6 mRNA and it is expected to extend the length of the MSH6 protein by 2 additional amino acid residues (p.*1361Aspext*2). The effect of this extension on protein function is uncertain. This variant has not been published in the literature and is not present in population databases. In summary, this is a novel stop-loss variant with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284185 SCV001469828 uncertain significance not provided 2019-10-20 criteria provided, single submitter clinical testing
Invitae RCV001343973 SCV001537999 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2021-05-16 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with MSH6-related conditions. This sequence change disrupts the translational stop signal of the MSH6 mRNA. It is expected to extend the length of the MSH6 protein by one additional amino acid residue.
Ambry Genetics RCV002321800 SCV002628890 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-13 criteria provided, single submitter clinical testing The c.4081_4082delTA variant, located in coding exon 10 of the MSH6 gene, results from a deletion of two nucleotides at nucleotide positions 4081 to 4082, causing a translational frameshift with a predicted alternate stop codon (p.*1361Dext*1). This alteration occurs at the 3' terminus of theMSH6 gene, is not expected to trigger nonsense-mediated mRNAdecay and results in the elongation of the protein by one amino acid. The exact functional effect of the altered amino acids is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001284185 SCV003808960 uncertain significance not provided 2020-08-25 criteria provided, single submitter clinical testing

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