ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2461_2462del (p.Val821fs)

dbSNP: rs1114167828
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491477 SCV000580492 pathogenic Hereditary cancer-predisposing syndrome 2012-07-25 criteria provided, single submitter clinical testing 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.
Mendelics RCV000708844 SCV000837854 pathogenic Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV003114617 SCV003786387 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-09-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 428483). This premature translational stop signal has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 30729418). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val821Leufs*2) 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).
Myriad Genetics, Inc. RCV003449354 SCV004186876 pathogenic Lynch syndrome 1 2023-08-08 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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