ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1803dup (p.Leu602fs)

dbSNP: rs786203704
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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 RCV000167124 SCV000217954 pathogenic Hereditary cancer-predisposing syndrome 2023-09-05 criteria provided, single submitter clinical testing The c.1803dupG (p.L602Afs*42) alteration, located in exon 12 (coding exon 12) of the MSH2 gene, consists of a duplication of G at position 1803, causing a translational frameshift with a predicted alternate stop codon after 42 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This mutation has been identified in a patient undergoing multi-gene panel testing for a personal and/or family history of cancer (Espenschied, 2017). Based on the available evidence, this alteration is classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001385381 SCV001585216 pathogenic Hereditary nonpolyposis colorectal neoplasms 2024-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu602Alafs*42) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hereditary cancer predisposition (PMID: 28514183). ClinVar contains an entry for this variant (Variation ID: 187400). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003454419 SCV004186962 pathogenic Lynch syndrome 1 2023-08-03 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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