Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000618945 | SCV000735426 | uncertain significance | Cardiovascular phenotype | 2021-04-11 | criteria provided, single submitter | clinical testing | The c.449dupA variant, located in coding exon 4 of the LAMA4 gene, results from a duplication of A at nucleotide position 449, causing a translational frameshift with a predicted alternate stop codon (p.N150Kfs*9). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of LAMA4 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002491308 | SCV002783239 | uncertain significance | Dilated cardiomyopathy 1JJ | 2021-09-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002491308 | SCV003272219 | uncertain significance | Dilated cardiomyopathy 1JJ | 2021-12-27 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 518536). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Asn150Lysfs*9) in the LAMA4 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LAMA4 cause disease. |