Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000723613 | SCV000196850 | likely benign | not provided | 2020-04-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24611677, 24082139, 27896284, 23891399) |
Eurofins Ntd Llc |
RCV000723613 | SCV000331387 | uncertain significance | not provided | 2015-06-22 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000149994 | SCV000595502 | uncertain significance | not specified | 2016-09-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084610 | SCV000658653 | benign | LAMA2-related muscular dystrophy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000670870 | SCV000795783 | uncertain significance | Merosin deficient congenital muscular dystrophy | 2017-11-25 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001156369 | SCV001317862 | 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. |
Ce |
RCV000723613 | SCV001500925 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | LAMA2: PM5, BP4, BS2 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000149994 | SCV002556232 | likely benign | not specified | 2022-06-29 | criteria provided, single submitter | clinical testing | Variant summary: LAMA2 c.2462C>T (p.Thr821Met) 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 0.002 in 282674 control chromosomes, predominantly at a frequency of 0.0036 within the Finnish subpopulation in the gnomAD database, including 1 homozygote. The observed variant frequency within Finnish control individuals in the gnomAD database is approximately two 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 a benign polymorphism found primarily in populations of Finnish origin. c.2462C>T has been reported in the literature in at least two homozygous individuals affected with Laminin Alpha 2-Related Dystrophy (example Xiong_2015, Ge_2019, Tan_2021). However, these reports do not provide unequivocal evidence for an association of the variant with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Eight clinical-significance assessments for this variant have been submitted to ClinVar after 2014 with conflicting assessments (VUS n=5, likely benign n=2, benign n=1). Based on the evidence outlined above, the variant was classified as likely benign. |
Revvity Omics, |
RCV000723613 | SCV003808105 | likely benign | not provided | 2023-09-13 | criteria provided, single submitter | clinical testing | |
Centre de Biologie Pathologie Génétique, |
RCV001252050 | SCV001427798 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |