ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1852C>T (p.Gln618Ter)

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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 RCV002413042 SCV002712163 pathogenic Hereditary cancer-predisposing syndrome 2021-05-26 criteria provided, single submitter clinical testing The p.Q618* pathogenic mutation (also known as c.1852C>T), located in coding exon 4 of the MSH6 gene, results from a C to T substitution at nucleotide position 1852. This changes the amino acid from a glutamine 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. RCV003454291 SCV004185823 pathogenic Lynch syndrome 5 2023-08-15 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 RCV004572444 SCV005055009 likely pathogenic Endometrial carcinoma 2023-12-05 criteria provided, single submitter clinical testing

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