ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.932_933insGA (p.Asn311fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002371611 SCV002685424 pathogenic Hereditary cancer-predisposing syndrome 2021-01-28 criteria provided, single submitter clinical testing The c.932_933insGA pathogenic mutation, located in coding exon 5 of the MSH2 gene, results from an insertion of two nucleotides at position 932, causing a translational frameshift with a predicted alternate stop codon (p.N311Kfs*21). 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. RCV003454224 SCV004188036 pathogenic Lynch syndrome 1 2023-07-28 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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