Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035304 | SCV000058952 | likely benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | Leu16Leu in exon 1 of GLA: This variant is not expected to have clinical signifi cance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/6728 European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.ed/EVS/;). Leu16Leu in exon 1 of GLA (allele frequency = 1/6728) ** |
Illumina Laboratory Services, |
RCV000352576 | SCV000481404 | uncertain significance | Hypertrophic cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000391328 | SCV000481405 | likely benign | Fabry disease | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Gene |
RCV001703454 | SCV000513152 | likely benign | not provided | 2018-10-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26866599) |
Invitae | RCV000391328 | SCV000556165 | likely benign | Fabry disease | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000391328 | SCV000913690 | likely benign | Fabry disease | 2018-05-29 | criteria provided, single submitter | clinical testing | |
Broad Institute Rare Disease Group, |
RCV000391328 | SCV001423097 | likely benign | Fabry disease | 2020-01-22 | criteria provided, single submitter | curation | The c.48T>G variant in GLA has not been previously reported in individuals with Fabry disease, and has been identified in 0.039% (36/92630) of European (non-Finnish) chromosomes, including 5 hemizygotes, 0.019% (1/5335) of other chromosomes, and 0.011% (3/28053) of Latino chromosomes, including 1 hemizygote, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs201449986). This variant has also been reported in ClinVar as likely bengin by the Laboratory for Molecular Medicine (Partners Healthcare), GeneDx, and Invitae and a VUS by Illumina Clinical Services Laboratory (ID:42455). Computational prediction tools, including splice predictors, and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely benign. ACMG/AMP Criteria applied: BS1, BP7 (Richards 2015). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000035304 | SCV001478601 | likely benign | not specified | 2021-01-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000391328 | SCV002054828 | likely benign | Fabry disease | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002326722 | SCV002634597 | likely benign | Cardiovascular phenotype | 2018-07-06 | 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. |
Revvity Omics, |
RCV001703454 | SCV003816836 | uncertain significance | not provided | 2021-01-21 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000391328 | SCV001458764 | likely benign | Fabry disease | 2020-09-16 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001703454 | SCV001931661 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001703454 | SCV001952205 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001703454 | SCV001964057 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Cohesion Phenomics | RCV000352576 | SCV003803078 | likely benign | Hypertrophic cardiomyopathy | 2022-09-29 | no assertion criteria provided | clinical testing |