ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2551_2552insCA (p.Leu851fs)

dbSNP: rs1553370381
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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 RCV000573214 SCV000676078 pathogenic Hereditary cancer-predisposing syndrome 2016-03-01 criteria provided, single submitter clinical testing The c.2551_2552insCA pathogenic mutation, located in coding exon 15 of the MSH2 gene, results from an insertion of two nucleotides at position 2551, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Myriad Genetics, Inc. RCV003451280 SCV004186680 likely pathogenic Lynch syndrome 1 2023-08-09 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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