Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410523 | SCV000488525 | uncertain significance | Multiple endocrine neoplasia, type 1 | 2016-04-20 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000455664 | SCV000539620 | uncertain significance | not specified | 2016-06-23 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 proband, multiple reports classify as non-pathogenic; ClinVar: 1 LB |
Invitae | RCV000410523 | SCV000541235 | likely benign | Multiple endocrine neoplasia, type 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000766972 | SCV000568652 | uncertain significance | not provided | 2022-11-22 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual with primary hyperparathyroidism (Jger et al., 2006); Published functional studies demonstrated that this variant did not significantly impact MEN1 protein expression (Shimazu et al., 2011); This variant is associated with the following publications: (PMID: 25637381, 19068082, 17879353, 9989505, 16563611, 21819486) |
Ambry Genetics | RCV000569499 | SCV000673624 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-25 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Mendelics | RCV000410523 | SCV001138344 | benign | Multiple endocrine neoplasia, type 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
St. |
RCV000410523 | SCV002584555 | uncertain significance | Multiple endocrine neoplasia, type 1 | 2022-08-15 | criteria provided, single submitter | clinical testing | The MEN1 c.511C>T (p.Arg171Trp) missense change has a maximum subpopulation frequency of 0.028% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). This variant was observed in a Danish individual with primary hyperparathyroidism (PMID: 16563611). The in silico tool REVEL predicts a deleterious effect on protein function, however functional studies indicate that this variant does not significantly reduce menin expression compared to the wild-type (PMID: 21819486). In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance. |
Laboratory of Molecular Epidemiology of Birth Defects, |
RCV003153432 | SCV003843281 | benign | Ovarian cancer | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000410523 | SCV004018032 | uncertain significance | Multiple endocrine neoplasia, type 1 | 2023-04-17 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |
Center for Genomic Medicine, |
RCV000455664 | SCV004027124 | uncertain significance | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
CSER _CC_NCGL, |
RCV000148612 | SCV000190327 | likely benign | Hyperparathyroidism | 2014-06-01 | no assertion criteria provided | research |