ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1366G>T (p.Glu456Ter)

dbSNP: rs963234468
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001214348 SCV001386025 pathogenic not provided 2023-04-14 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: 944035). This premature translational stop signal has been observed in individual(s) with polyps (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu456*) in the MSH3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH3 are known to be pathogenic (PMID: 27476653).
Ambry Genetics RCV002379812 SCV002702932 pathogenic Hereditary cancer-predisposing syndrome 2022-03-03 criteria provided, single submitter clinical testing The p.E456* pathogenic mutation (also known as c.1366G>T), located in coding exon 9 of the MSH3 gene, results from a G to T substitution at nucleotide position 1366. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. 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.
Myriad Genetics, Inc. RCV003458638 SCV004189132 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.
Baylor Genetics RCV003462725 SCV004197519 pathogenic Endometrial carcinoma 2022-03-31 criteria provided, single submitter clinical testing

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