ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.6268+5G>C (rs182064878)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000432057 SCV000337033 uncertain significance not provided 2015-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371198 SCV000460062 uncertain significance Congenital muscular dystrophy due to partial LAMA2 deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory 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, this variant 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, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000432057 SCV000511226 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Genetic Services Laboratory,University of Chicago RCV000283158 SCV000595507 uncertain significance not specified 2017-03-22 criteria provided, single submitter clinical testing
Invitae RCV000527078 SCV000658737 uncertain significance Laminin alpha 2-related dystrophy 2019-10-15 criteria provided, single submitter clinical testing This sequence change falls in intron 43 of the LAMA2 gene. It does not directly change the encoded amino acid sequence of the LAMA2 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs182064878, ExAC 0.1%) but has not been reported in the literature in individuals with a LAMA2-related disease. ClinVar contains an entry for this variant (Variation ID: 284415). Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000764630 SCV000895738 uncertain significance Merosin deficient congenital muscular dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 2018-10-31 criteria provided, single submitter clinical testing

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