Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037392 | SCV000061049 | uncertain significance | not specified | 2012-11-14 | criteria provided, single submitter | clinical testing | The Pro1750Leu variant in LAMA4 has not been reported in the literature nor prev iously identified by our laboratory or in large and broad European American and African American populations screened by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS/). It was detected in 1/196 Tuscan chromosomes fro m a broad population by the 1000 Genomes Sequencing Project (dbSNP rs200177134). The low frequency of this variant is insufficient to assess its clinical signif icance. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional information is needed to fully as sess the clinical significance of the Pro1750Leu variant. |
Fulgent Genetics, |
RCV000765865 | SCV000897261 | uncertain significance | Dilated cardiomyopathy 1JJ | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000765865 | SCV001001568 | likely benign | Dilated cardiomyopathy 1JJ | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001563383 | SCV001786314 | likely benign | not provided | 2020-09-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28798025, 25979592) |
Ambry Genetics | RCV002345293 | SCV002646122 | likely benign | Cardiovascular phenotype | 2019-09-18 | 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. |
Prevention |
RCV003944911 | SCV004765962 | likely benign | LAMA4-related condition | 2019-11-16 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Clinical Molecular Genetics Laboratory, |
RCV000037392 | SCV000804879 | uncertain significance | not specified | 2016-09-23 | no assertion criteria provided | clinical testing |