Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000810367 | SCV000950563 | uncertain significance | Dilated cardiomyopathy 1JJ | 2024-01-28 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 608 of the LAMA4 protein (p.Gly608Arg). This variant is present in population databases (rs377499201, gnomAD 0.008%). 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: 654405). 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 disruptive. 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. |
Gene |
RCV001759563 | SCV001986381 | uncertain significance | not provided | 2019-12-16 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Ambry Genetics | RCV002406821 | SCV002712063 | uncertain significance | Cardiovascular phenotype | 2022-12-18 | criteria provided, single submitter | clinical testing | The p.G608R variant (also known as c.1822G>A), located in coding exon 14 of the LAMA4 gene, results from a G to A substitution at nucleotide position 1822. The glycine at codon 608 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV000810367 | SCV002790450 | uncertain significance | Dilated cardiomyopathy 1JJ | 2021-10-06 | criteria provided, single submitter | clinical testing |