ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2041del (p.Leu681fs)

dbSNP: rs1572725436
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806221 SCV000946208 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-01-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 650960). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu681Serfs*4) 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).
Ambry Genetics RCV002422764 SCV002723057 pathogenic Hereditary cancer-predisposing syndrome 2018-04-23 criteria provided, single submitter clinical testing The c.2041delC pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 2041, causing a translational frameshift with a predicted alternate stop codon (p.L681Sfs*4). 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.

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