Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000651451 | SCV000773302 | uncertain significance | Dilated cardiomyopathy 1JJ | 2023-08-11 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 9 of the LAMA4 gene. It does not directly change the encoded amino acid sequence of the LAMA4 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 541232). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV002397306 | SCV002712245 | uncertain significance | Cardiovascular phenotype | 2022-05-11 | criteria provided, single submitter | clinical testing | The c.1056+4C>T intronic variant results from a C to T substitution 4 nucleotides after coding exon 8 in the LAMA4 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |