Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000479286 | SCV000573751 | uncertain significance | not provided | 2019-11-19 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Fulgent Genetics, |
RCV002481536 | SCV002785944 | uncertain significance | Dilated cardiomyopathy 1JJ | 2021-10-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003168982 | SCV003858539 | uncertain significance | Cardiovascular phenotype | 2022-12-14 | criteria provided, single submitter | clinical testing | The p.N68S variant (also known as c.203A>G), located in coding exon 2 of the LAMA4 gene, results from an A to G substitution at nucleotide position 203. The asparagine at codon 68 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV002481536 | SCV004506426 | uncertain significance | Dilated cardiomyopathy 1JJ | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 68 of the LAMA4 protein (p.Asn68Ser). This variant is present in population databases (rs782428669, gnomAD 0.01%). 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: 423982). 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. |