Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000482229 | SCV000229853 | pathogenic | not provided | 2014-05-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000482229 | SCV000569375 | pathogenic | not provided | 2024-08-27 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31127727, 25663498, 37476021, 35710456) |
Labcorp Genetics |
RCV000533733 | SCV000658709 | pathogenic | LAMA2-related muscular dystrophy | 2023-07-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Val1754*) in the LAMA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894, 32904964). This variant is present in population databases (rs794727594, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with congenital muscular dystrophy (PMID: 25663498). ClinVar contains an entry for this variant (Variation ID: 196993). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000533733 | SCV001362505 | pathogenic | LAMA2-related muscular dystrophy | 2019-11-15 | criteria provided, single submitter | clinical testing | Variant summary: LAMA2 c.5260delG (p.Val1754X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.6e-05 in 249822 control chromosomes. c.5260delG has been reported in the literature in at-least one individual affected with Laminin alpha 2-related dystrophy (example, Lokken_2015). At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in a complete absence of Merosin protein staining by IHC and western blot analysis (Lokken_2015). Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic (n=2)/likely pathogenic (n=1). Based on the evidence outlined above, the variant was classified as pathogenic. |
Institute of Medical Genetics and Applied Genomics, |
RCV000482229 | SCV001447452 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000177896 | SCV004190428 | pathogenic | Merosin deficient congenital muscular dystrophy | 2024-03-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000482229 | SCV004811045 | pathogenic | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | LAMA2: PVS1, PM2, PM3 |
Counsyl | RCV000177896 | SCV000792345 | likely pathogenic | Merosin deficient congenital muscular dystrophy | 2017-06-14 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000482229 | SCV001807185 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000482229 | SCV001953023 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000482229 | SCV001971383 | pathogenic | not provided | no assertion criteria provided | clinical testing |