ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2342del (p.Ala781fs)

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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 RCV002448305 SCV002732409 pathogenic Hereditary cancer-predisposing syndrome 2021-06-02 criteria provided, single submitter clinical testing The c.2342delC pathogenic mutation, located in coding exon 14 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 2342, causing a translational frameshift with a predicted alternate stop codon (p.A781Efs*31). 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. RCV003455464 SCV004186983 pathogenic Lynch syndrome 1 2023-08-08 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003455464 SCV004196932 likely pathogenic Lynch syndrome 1 2021-10-07 criteria provided, single submitter clinical testing

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