ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3846_3849dup (p.Thr1284fs)

dbSNP: rs1114167783
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491166 SCV000580351 pathogenic Hereditary cancer-predisposing syndrome 2022-12-08 criteria provided, single submitter clinical testing The c.3846_3849dupTATT pathogenic mutation, located in coding exon 9 of the MSH6 gene, results from a duplication of TATT at nucleotide position 3846, causing a translational frameshift with a predicted alternate stop codon (p.T1284Yfs*6). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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 RCV001062176 SCV001226956 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-11-26 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: 428421). This premature translational stop signal has been observed in individual(s) with clinical features of MSH6-related conditions (PMID: 21520333). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr1284Tyrfs*6) 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).
Baylor Genetics RCV003470604 SCV004196341 likely pathogenic Endometrial carcinoma 2022-01-01 criteria provided, single submitter clinical testing

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