ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1458_1459del (p.Glu487fs)

dbSNP: rs1114167750
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000490994 SCV000580259 pathogenic Hereditary cancer-predisposing syndrome 2021-01-12 criteria provided, single submitter clinical testing The c.1458_1459delTG pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of two nucleotides at nucleotide positions 1458 to 1459, causing a translational frameshift with a predicted alternate stop codon (p.E487Dfs*10). This mutation has been reported in a patient with microsatellite stable colon cancer (Latham A et al. J Clin Oncol, 2019 02;37:286-295). In addition to the clinical data presented in the literature, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001856942 SCV002157490 pathogenic Hereditary nonpolyposis colorectal neoplasms 2024-07-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu487Aspfs*10) 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 428371). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003449315 SCV004188325 pathogenic Lynch syndrome 5 2023-08-14 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003464054 SCV004197567 pathogenic Endometrial carcinoma 2023-10-29 criteria provided, single submitter clinical testing

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