ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1889del (p.Gly630fs)

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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 RCV002407981 SCV002723849 pathogenic Hereditary cancer-predisposing syndrome 2020-04-07 criteria provided, single submitter clinical testing The c.1889delG pathogenic mutation, located in coding exon 12 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 1889, causing a translational frameshift with a predicted alternate stop codon (p.G630Efs*5). 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. RCV003454298 SCV004187958 pathogenic Lynch syndrome 1 2023-08-04 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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