Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482041 | SCV000570414 | uncertain significance | not provided | 2021-10-06 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 421269; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918) |
Ambry Genetics | RCV000617622 | SCV000735829 | uncertain significance | Cardiovascular phenotype | 2022-05-03 | criteria provided, single submitter | clinical testing | The p.R103W variant (also known as c.307C>T), located in coding exon 3 of the LAMA4 gene, results from a C to T substitution at nucleotide position 307. The arginine at codon 103 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
Invitae | RCV000686153 | SCV000813657 | uncertain significance | Dilated cardiomyopathy 1JJ | 2023-11-29 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 103 of the LAMA4 protein (p.Arg103Trp). This variant is present in population databases (rs138176093, gnomAD 0.03%), and has an allele count higher than expected for a pathogenic variant. 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: 421269). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
Fulgent Genetics, |
RCV000686153 | SCV002789486 | uncertain significance | Dilated cardiomyopathy 1JJ | 2021-08-23 | criteria provided, single submitter | clinical testing |