ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3720dup (p.Cys1241fs)

dbSNP: rs2104541388
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001952718 SCV002210140 pathogenic Hereditary nonpolyposis colorectal neoplasms 2021-04-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1241Metfs*34) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with MSH6-related conditions. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV002344079 SCV002623227 pathogenic Hereditary cancer-predisposing syndrome 2020-08-19 criteria provided, single submitter clinical testing The c.3720dupA pathogenic mutation, located in coding exon 8 of the MSH6 gene, results from a duplication of A at nucleotide position 3720, causing a translational frameshift with a predicted alternate stop codon (p.C1241Mfs*34). 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.
Genetics and Molecular Pathology, SA Pathology RCV003447608 SCV004175355 pathogenic Lynch syndrome 5 2022-06-27 criteria provided, single submitter clinical testing

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