Total submissions: 4
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, |
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. |