ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3253dup (p.Thr1085fs)

dbSNP: rs1114167705
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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 RCV000630182 SCV000751138 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-06-13 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: 525839). This premature translational stop signal has been observed in individual(s) with colorectal cancer or endometrial cancer (PMID: 20028993). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr1085Asnfs*8) 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 RCV002448930 SCV002611297 pathogenic Hereditary cancer-predisposing syndrome 2017-12-22 criteria provided, single submitter clinical testing The c.3253dupA variant, located in coding exon 5 of the MSH6 gene, results from a duplication of A at nucleotide position 3253, causing a translational frameshift with a predicted alternate stop codon (p.T1085Nfs*8). 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. RCV003451506 SCV004187397 pathogenic Lynch syndrome 5 2023-08-22 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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