Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000668321 | SCV000792899 | likely pathogenic | Merosin deficient congenital muscular dystrophy | 2017-08-03 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001855494 | SCV002212183 | pathogenic | LAMA2-related muscular dystrophy | 2021-07-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 552966). This variant has not been reported in the literature in individuals affected with LAMA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys318Leufs*20) 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). |
| Fulgent Genetics, |
RCV002499162 | SCV002811640 | likely pathogenic | Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 | 2021-12-23 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002530740 | SCV003760195 | pathogenic | Inborn genetic diseases | 2021-02-01 | criteria provided, single submitter | clinical testing | The c.951_952insCT (p.C318Lfs*20) alteration, located in exon 7 (coding exon 7) of the LAMA2 gene, consists of an insertion of CT at position 951, causing a translational frameshift with a predicted alternate stop codon after 20 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from the Genome Aggregation Database (gnomAD) database, the LAMA2 c.951_952insCT alteration was observed in 0.0004% (1/251,280) of total alleles studied. This alteration was reported homozygous in a male patient with congenital muscular dystrophy (Pegoraro, 1998). A muscle biopsy at 7 months of age showed complete laminin alpha2 deficiency. Based on the available evidence, this alteration is classified as pathogenic. |
| Gene |
RCV003233797 | SCV003930477 | pathogenic | not provided | 2023-06-09 | criteria provided, single submitter | clinical testing | Frameshift 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); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 9674786) |
| Baylor Genetics | RCV000668321 | SCV004190573 | likely pathogenic | Merosin deficient congenital muscular dystrophy | 2023-12-05 | criteria provided, single submitter | clinical testing |