ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1819del (p.Thr607fs)

dbSNP: rs587779221
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797690 SCV000937264 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-10-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). This variant has not been reported in the literature in individuals with MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 643882). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr607Glnfs*3) in the MSH6 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002406754 SCV002713086 pathogenic Hereditary cancer-predisposing syndrome 2021-08-27 criteria provided, single submitter clinical testing The c.1819delA pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 1819, causing a translational frameshift with a predicted alternate stop codon (p.T607Qfs*3). 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.
Constitutional Genetics Lab, Leon Berard Cancer Center RCV001249956 SCV001423970 pathogenic Lynch-like syndrome 2019-07-01 no assertion criteria provided clinical testing

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