ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.-21A>T

dbSNP: rs776559145
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986641 SCV001135685 likely benign Lynch syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV002549673 SCV002954750 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2024-01-28 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the MSH2 gene. It does not change the encoded amino acid sequence of the MSH2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 801676). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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