ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.698dup (p.Pro233_Lys234insTer)

dbSNP: rs1553412120
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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 RCV000572959 SCV000662567 pathogenic Hereditary cancer-predisposing syndrome 2017-04-17 criteria provided, single submitter clinical testing The c.698dupC pathogenic mutation (also known as p.K234*), located in coding exon 4 of the MSH6 gene, results from a duplication of C at nucleotide position 698. This changes the amino acid from a lysine to a stop codon within coding exon 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.
Myriad Genetics, Inc. RCV003451219 SCV004187320 pathogenic Lynch syndrome 5 2023-08-10 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Baylor Genetics RCV003459293 SCV004196348 likely pathogenic Endometrial carcinoma 2021-11-04 criteria provided, single submitter clinical testing

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