ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.442C>T (p.Gln148Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003459099 SCV004189180 pathogenic Familial adenomatous polyposis 4 2023-08-29 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.
Ambry Genetics RCV004943034 SCV005448220 pathogenic Hereditary cancer-predisposing syndrome 2024-08-19 criteria provided, single submitter clinical testing The p.Q148* pathogenic mutation (also known as c.442C>T), located in coding exon 3 of the MSH3 gene, results from a C to T substitution at nucleotide position 442. This changes the amino acid from a glutamine to a stop codon within coding exon 3. 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.

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