Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000544760 | SCV000658624 | pathogenic | LAMA2-related muscular dystrophy | 2016-07-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). While this particular variant has not been reported in the literature, loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). This sequence change affects a donor splice site in intron 10 of the LAMA2 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. |
Illumina Laboratory Services, |
RCV000778776 | SCV000915145 | uncertain significance | Congenital muscular dystrophy due to partial LAMA2 deficiency | 2018-10-10 | criteria provided, single submitter | clinical testing | This variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. It was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene and cDNA change. No publications were found based on this search. Due to the potential impact of splice donor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for this disease. |
Revvity Omics, |
RCV001783062 | SCV002022627 | likely pathogenic | not provided | 2021-03-22 | criteria provided, single submitter | clinical testing |