Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000659062 | SCV000229395 | uncertain significance | not provided | 2016-06-09 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000194655 | SCV000247808 | uncertain significance | not specified | 2014-12-01 | criteria provided, single submitter | clinical testing | |
Center for Genetic Medicine Research, |
RCV000194655 | SCV000265802 | uncertain significance | not specified | 2015-12-01 | criteria provided, single submitter | research | |
Gene |
RCV000659062 | SCV000518856 | benign | not provided | 2018-04-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24957499, 28133863, 27854218) |
Invitae | RCV001081183 | SCV000658688 | benign | LAMA2-related muscular dystrophy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000659062 | SCV000780869 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | LAMA2: BS2 |
Mayo Clinic Laboratories, |
RCV000509423 | SCV000782654 | uncertain significance | Merosin deficient congenital muscular dystrophy | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000659062 | SCV000842619 | benign | not provided | 2017-12-15 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000509423 | SCV001137222 | benign | Merosin deficient congenital muscular dystrophy | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001152676 | SCV001313901 | uncertain significance | Congenital muscular dystrophy due to partial LAMA2 deficiency | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000194655 | SCV002103481 | likely benign | not specified | 2023-12-07 | criteria provided, single submitter | clinical testing | Variant summary: LAMA2 c.4487C>T (p.Ala1496Val) results in a non-conservative amino acid change located in the EGF-like domain (IPR000742) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0037 in 1613554 control chromosomes in the gnomAD database V4, including 32 homozygotes. The observed variant frequency is approximately 2 fold of the estimated maximal expected allele frequency for a pathogenic variant in LAMA2 causing Laminin Alpha 2-Related Dystrophy phenotype (0.0022), strongly suggesting that the variant is benign. Although reported in mutational updates (example, Oliviera_2018), to our knowledge, no penetrant association of c.4487C>T in individuals affected with Laminin Alpha 2-Related Dystrophy and no supporting experimental evidence demonstrating its impact on protein function have been reported. The following publication has been ascertained in the context of this evaluation (PMID: 30055037). Nine submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as benign/likely benign (n=5) and VUS (n=4). Based on the evidence outlined above, the variant was classified as likely benign. |
Genome |
RCV000509423 | SCV000607097 | not provided | Merosin deficient congenital muscular dystrophy | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
OMIM | RCV000709620 | SCV000839536 | pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 23 | 2018-10-05 | no assertion criteria provided | literature only | |
Laboratory of Diagnostic Genome Analysis, |
RCV000659062 | SCV001798374 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000659062 | SCV001951366 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000194655 | SCV001964121 | benign | not specified | no assertion criteria provided | clinical testing |