ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2296dup (p.His766fs)

dbSNP: rs1114167712
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491021 SCV000580156 pathogenic Hereditary cancer-predisposing syndrome 2019-01-15 criteria provided, single submitter clinical testing The c.2296dupC pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a duplication of C at nucleotide position 2296, causing a translational frameshift with a predicted alternate stop codon (p.H766Pfs*6). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003449298 SCV004188294 pathogenic Lynch syndrome 5 2023-08-16 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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