Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000130813 | SCV000185709 | likely benign | Hereditary cancer-predisposing syndrome | 2018-07-22 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Labcorp Genetics |
RCV002228499 | SCV000259992 | likely benign | Juvenile polyposis syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000130813 | SCV000537607 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000657050 | SCV000567656 | uncertain significance | not provided | 2022-08-10 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed in individuals with colorectal, gastric, or breast cancer (Greenman 2007, Yurgelun 2017, Dutil 2019); This variant is associated with the following publications: (PMID: 25980754, 28135145, 21153778, 26659599, 17344846, 30761385, 32068069, 31780696, 27535533) |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000657050 | SCV000600217 | likely benign | not provided | 2023-05-17 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000487332 | SCV001362963 | uncertain significance | not specified | 2022-09-22 | criteria provided, single submitter | clinical testing | Variant summary: BMPR1A c.1348G>A (p.Val450Met) results in a conservative amino acid change located in the Serine-threonine/tyrosine-protein kinase, catalytic domain (IPR000719) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 6.4e-05 in 251480 control chromosomes (gnomAD). The observed variant frequency is approximately 32 fold of the estimated maximal expected allele frequency for a pathogenic variant in BMPR1A causing Juvenile Polyposis Syndrome (2e-06), strongly suggesting that the variant is benign. c.1348G>A has been reported in the literature in individuals affected with colorectal cancer or breast cancer (Yurgelun_2017, Dutil_2019, Kwong_2020). These reports do not provide unequivocal conclusions about association of the variant with Juvenile Polyposis Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six ClinVar submitters have assessed the variant since 2014: two classified the variant as uncertain significance and four as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign. |
Sema4, |
RCV000130813 | SCV002528564 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-05 | criteria provided, single submitter | curation | |
Mayo Clinic Laboratories, |
RCV000657050 | SCV004225286 | uncertain significance | not provided | 2022-12-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000657050 | SCV004234642 | uncertain significance | not provided | 2023-06-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000657050 | SCV005042387 | uncertain significance | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000487332 | SCV005090863 | uncertain significance | not specified | 2024-07-31 | criteria provided, single submitter | clinical testing |