Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000603660 | SCV000713726 | uncertain significance | not specified | 2017-10-26 | criteria provided, single submitter | clinical testing | The p.Arg1555fs variant in LAMA4 has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is predicted t o cause a frameshift, which alters the protein?s amino acid sequence beginning a t position 1555 and leads to a premature termination codon 7 amino acids downstr eam. This alteration is then predicted to lead to a truncated or absent protein. The pathogenic variant spectrum of LAMA4 is not well understood and it is uncle ar if loss of function variants in this gene are disease causing. Therefore, the clinical significance of the p.Arg1555fs variant is uncertain. ACMG/AMP Criteri a applied: PM2 (Richards 2015). |
Invitae | RCV001066226 | SCV001231231 | uncertain significance | Dilated cardiomyopathy 1JJ | 2019-11-20 | 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LAMA4 cause disease. This variant has not been reported in the literature in individuals with LAMA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 506186). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg1555Glufs*8) in the LAMA4 gene. It is expected to result in an absent or disrupted protein product. |
Gene |
RCV001591368 | SCV001815386 | uncertain significance | not provided | 2021-02-16 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 506186; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease |
Fulgent Genetics, |
RCV001066226 | SCV002778385 | uncertain significance | Dilated cardiomyopathy 1JJ | 2021-07-29 | criteria provided, single submitter | clinical testing |